中华医学遗传学杂志最新文献

{"title":"[Genetic disease diagnosis and treatment in Shanghai: Survey and countermeasures for clinical genetics specialist training].","authors":"Xiaoju Huang, Lin Han, Li Cao, Taosheng Huang, Duan Ma, Jian Wang, Wenjuan Qiu, Fanyi Zeng, Luming Sun, Chenming Xu, Songchang Chen, Xinyu Kuang, Hong Tian","doi":"10.3760/cma.j.cn511374-20251208-00708","DOIUrl":"10.3760/cma.j.cn511374-20251208-00708","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the current status of clinical genetics specialization development and the diagnostic and therapeutic capabilities for hereditary diseases across medical institutions in Shanghai, and to assess the necessity and feasibility of establishing training bases for clinical genetics specialists.</p><p><strong>Methods: </strong>By employing a cross-sectional survey design, the Clinical Genetics Committee of Shanghai Medical Association has conducted questionnaire surveys from March to April 2025 across 54 healthcare institutions in Shanghai (including 33 tertiary hospitals and 21 secondary hospitals). The survey involved administrative departments and medical personnel from 15 clinical specialties. The survey has covered current genetic disease diagnosis and treatment practices, relevant and specialised disease types, genetic department establishment, testing capabilities, personnel teams, and training requirements.</p><p><strong>Results: </strong>The results revealed that 78.0% of clinical departments surveyed had treated patients with hereditary disorders. Shanghai possesses diagnostic and therapeutic expertise for over 95% of hereditary diseases listed in its rare disease catalogue, reflecting both the practical clinical demand for such conditions and the city's overall diagnostic and therapeutic strengths in this field. Nevertheless, significant disparities exist in the development of genetics departments across different tiers of healthcare institutions. Resources for genetic testing capabilities (including molecular, cellular, and biochemical testing) are also unevenly distributed across different tiers of hospitals. The survey further revealed that only 26.0% of departments believe that their current physician structure fully meets the diagnostic and treatment demands. Over 90% of departments consider standard training for clinical genetic specialists necessary, with 74.0% expressing willingness to participate in establishing training bases. Based on above findings and thorough deliberation, the Clinical Genetics Committee of the Shanghai Medical Association proposes advancing specialist training and discipline development through establishing a standard training system. The committee has drafted a three-year training protocol featuring a \"joint training\"-centered model, recommending a pilot-first, dynamically optimized strategy for steadily advancing training base development.</p><p><strong>Conclusion: </strong>Shanghai faces substantial demand for genetic disease diagnosis and treatment, yet exhibits shortcomings in clinical genetics specialization development, resource allocation, and talent pipeline cultivation. To establish a standard training system holds significant practical importance and is underpinned by a broad demand.</p>","PeriodicalId":39319,"journal":{"name":"中华医学遗传学杂志","volume":"43 4","pages":"241-247"},"PeriodicalIF":0.0,"publicationDate":"2026-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147595368","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Advances in molecular genetic research on Myelodysplastic syndrome].","authors":"Tao Wu, Wenhui Liu, Yang Liu, Qiuyue Wu","doi":"10.3760/cma.j.cn511374-20250211-00070","DOIUrl":"10.3760/cma.j.cn511374-20250211-00070","url":null,"abstract":"<p><p>Myelodysplastic syndrome (MDS) is a chronic hematologic disorder characterized by ineffective hematopoiesis, dysplasia of one or more cell lines with or without definite genetic changes. Its diagnosis requires a comprehensive analysis combining morphology, immunology, cytogenetics, and molecular biology findings. In recent years, the development of second-generation sequencing (NGS) has provided great assistance in exploring the molecular pathogenesis of hematological malignancies and guidance for clinical practice. Mutations of a series of gene involved in RNA splicing, DNA methylation, transcriptional regulation, signal transduction, chromatin modification and cohesin complex have been identified as important mechanisms for the development of MDS, among which some mutations have been found to play important roles in the diagnosis, treatment, and prognosis of MDS. This article has provided a comprehensive review the the common molecular genetic abnormalities involved in MDS.</p>","PeriodicalId":39319,"journal":{"name":"中华医学遗传学杂志","volume":"43 4","pages":"307-311"},"PeriodicalIF":0.0,"publicationDate":"2026-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147595386","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Genetic analysis and reproductive intervention for 46 Chinese pedigrees affected with Hereditary multiple exostoses].","authors":"Lilan Su, Xiao Hu, Jing Dai, Zhengxing Wan, Duo Yi, Shuangfei Li, Liang Hu, Yueqiu Tan, Fei Gong, Ge Lin, Guangxiu Lu, Qianjun Zhang, Juan Du, Wenbin He","doi":"10.3760/cma.j.cn511374-20251224-00746","DOIUrl":"10.3760/cma.j.cn511374-20251224-00746","url":null,"abstract":"<p><strong>Objective: </strong>To explore the genetic etiology of 46 Chinese pedigrees affected with Hereditary multiple exostoses (HME) and provide genetic counseling and reproductive intervention.</p><p><strong>Methods: </strong>Whole-exome sequencing and Sanger sequencing were carried out on 87 patients from the 46 pedigrees to analyze the variants of EXT1 and EXT2 genes. Pathogenicity of the variants was assessed based on the guidelines from the American College of Medical Genetics and Genomics and Association for Molecular Pathology (ACMG/AMP). Prenatal diagnosis and preimplantation genetic testing (PGT) were provided for couples with identified pathogenic mutations. This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: LL-SC-SG-2014-010).</p><p><strong>Results: </strong>In total 17 and 22 pathogenic variants were respectively identified in the EXT1 and EXT2 genes, among which 5 EXT1 and 12 EXT2 variants were unreported previously. Three patients with no family history were found to harbor de novo variants of the EXT1 gene. Twenty nine couples had opted for PGT or underwent prenatal diagnosis following natural conception, and 17 healthy babies were born.</p><p><strong>Conclusion: </strong>This study has clarified the genetic etiology of 45 HME pedigrees and identified 17 novel variants, which has enriched the mutational spectrum of the EXT1 and EXT2 genes. Reproductive intervention through PGT and prenatal diagnosis have prevented the recurrence of HME in these families.</p>","PeriodicalId":39319,"journal":{"name":"中华医学遗传学杂志","volume":"43 4","pages":"253-258"},"PeriodicalIF":0.0,"publicationDate":"2026-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147595347","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Two cases of Non-classic adrenal hyperplasia: Diagnostic strategies and genetic variant analysis].","authors":"Qigang Zhang, Xia Zhan, Qing Sheng, Mi Yu, Yinbao Lu","doi":"10.3760/cma.j.cn511374-20250703-00401","DOIUrl":"10.3760/cma.j.cn511374-20250703-00401","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the clinical characteristics, steroid hormone profiles, and genetic variants in two female patients with Non-classic adrenal hyperplasia (NCAH).</p><p><strong>Methods: </strong>Clinical data and samples were collected from two patients who had visited Huaian Maternal and Child Health Care Hospital Affiliated to Medical College of Yangzhou University on September 27, 2022 and June 25, 2023, respectively, with an initial diagnosis of Polycystic ovary syndrome (PCOS) and suspected NCAH. Seven steroid hormones in dried blood spots were analyzed using liquid chromatography-tandem mass spectrometry (LC-MS/MS). Single base variants and repeat/deletions in the CYP21A2 gene were analyzed by using a classic congenital adrenal hyperplasia (CAH) gene assay, and 10 related genes were analyzed by third-generation sequencing (TGS) should the variants be unclear. This study has been approved by the Medical Ethics Committee of the hospital (Ethics No.: 2025003).</p><p><strong>Results: </strong>Patient 1 was a 14-year-old girl, and patient 2 was a 23-year-old woman with insulin resistance. Both patients had hirsutism, acne, bilateral polycystic ovarian morphology, in addition with significantly elevated serum testosterone by chemiluminescence. The steroid hormone profiles of both patients suggested a significant increase in 17-hydroxyproesterone, normal cortisol and 11-deoxycortisol. Patient 2 additionally showed a significant rise in 21-deoxycortisol. The presentation of both patients was indicative of NCAH, which was also evidenced by their respective medical histories. Sanger sequencing of long fragment PCR amplification combined with multiplex ligation-dependent probe amplification (MLPA) revealed that patient 1 harbored a mild c.92C>T (p.P31L) variant and a severe variant with a large segmental deletion in CYP21A2. Patient 2 was finally confirmed by TGS to carry mild CYP21A2 variants in the 5' untranslated region (5' UTR) promotor region (c.-126C>T, c.-113G>A, c.-110T>C) and a severe c.293-13C/A>G variant. The promotor region variants had resulted in decompression of the long fragment P1X/P2 amplification, leading to homozygous result of Sanger sequencing for c.293-13C/A>G, which in turn halved the amplification signal for the wt-113 SNP probe. In addition, the wtI2G-A probe was enhanced by interference in the MLPA assay.</p><p><strong>Conclusion: </strong>This study demonstrated that NCAH should be excluded when PCOS is accompanied by a significant increase in serum testosterone, that mass spectrometry of steroid hormone profiles containing 17-hydroxyprogesterone is useful for the detection of NCAH, and that TGS is advantageous in confirming the diagnosis of NCAH when compared with conventional genetic testing methods.</p>","PeriodicalId":39319,"journal":{"name":"中华医学遗传学杂志","volume":"43 4","pages":"273-280"},"PeriodicalIF":0.0,"publicationDate":"2026-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147595308","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Consensus on method selection, experimental testing, and data analysis of newborn genetic screening (2026 Edition)].","authors":"Screening Group Of Neonatal Genetic Metabolic Disease Special Committee Of Birth Defects Prevention And Control Chinese Preventive Medical Association, Yun Yang, Lianshu Han","doi":"10.3760/cma.j.cn511374-20250918-00550","DOIUrl":"10.3760/cma.j.cn511374-20250918-00550","url":null,"abstract":"<p><p>High-throughput sequencing is a revolutionary technology in newborn screening following tandem mass spectrometry. However, there is a lack of consensus regarding technical choices for laboratory implementation, detection procedures, and data analysis. This consensus document was developed through joint discussions by experts in newborn genetic screening, incorporating clinical experience and referencing the latest research. It provides recommendations covering five aspects: high-throughput sequencing method selection, experimental protocols, bioinformatics analysis strategies, data interpretation and reporting, and quality control. It is recommended to use hybrid capture gene panels as the preferred method for newborn genetic screening and experimental protocols suitable for dried blood spots. For bioinformatics analysis, a genotype-driven strategy is recommended for variant filtering. Laboratories with appropriate capabilities may combine this with a phenotype-driven strategy. Data interpretation and reporting should prioritize pathogenic or likely pathogenic variants. For diseases detectable through biochemical screening or alternative methods during the newborn period, laboratories may extend reporting to include variants of uncertain significance based on inheritance patterns and a Bayesian model score of 4 ~ 5. To align with anticipated screening outcomes (positive, uncertain, negative), reports are recommended to be categorized into primary findings (associated with disease risk) and secondary findings (such as carrier status). The performance of genetic screening protocol should assess key metrics such as analytical sensitivity.</p>","PeriodicalId":39319,"journal":{"name":"中华医学遗传学杂志","volume":"43 3","pages":"161-170"},"PeriodicalIF":0.0,"publicationDate":"2026-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147595152","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[From prenatal screening to passive diagnosis in adulthood: Phenotypic association analysis of 224 patients with Klinefelter syndrome].","authors":"Huanhuan Zhang, Yong Wu, Yamei Xie, Qingsong Liu","doi":"10.3760/cma.j.cn511374-20250903-00566","DOIUrl":"10.3760/cma.j.cn511374-20250903-00566","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the detection patterns, clinical phenotypic characteristics, and differences in diagnostic timeliness of Klinefelter syndrome (KS) across prenatal and postnatal stages, with an aim to provide a basis for optimizing strategies for early screening, diagnosis, and intervention.</p><p><strong>Methods: </strong>A retrospective study was conducted to analyze data from two phases. The prenatal diagnosis group included 33,302 pregnant women who underwent amniocytic karyotyping due to advanced maternal age, abnormal ultrasound findings, or high-risk non-invasive prenatal testing (NIPT). The postnatal diagnosis group included 52,101 patients who underwent peripheral blood karyotyping due to primary infertility, abnormal external genitalia, or growth and developmental abnormalities. Additionally, medical histories of adult diagnosed patients were reviewed retrospectively to identify early occult symptoms. This study was approved by the Medical Ethics Committee of Chengdu Women's and Children's Central Hospital (Ethics No.: LCYJ-2025-030).</p><p><strong>Results: </strong>In the prenatal group, 96 cases of KS were detected (detection rate 0.29%). The primary indications for referral were NIPT indicating sex chromosome abnormalities (45.83%), advanced maternal age (16.66%), and ultrasound abnormalities (17.70%). In the postnatal group, 128 cases of KS were detected (detection rate 0.25%). Clinical presentations were primarily primary infertility/azoospermia (77.34%), and the patients were predominantly adults (84.40%). Retrospective analysis revealed that adult patients presented with specific physical signs that had been overlooked during childhood.</p><p><strong>Conclusion: </strong>As KS lacks typical early clinical manifestations, diagnosis is often delayed until adulthood when reproductive needs arise, showing a pattern of \"passive detection\" and resulting in missed opportunities for optimal intervention. By conducting a comparative analysis of prenatal diagnostic data and postnatal retrospective data, a risk association model linking prenatal screening indications with childhood-specific signs was developed. This study has provided empirical evidence for establishing a multidisciplinary, full life-cycle management system of \"screening ~ diagnosis ~ monitoring ~ intervention\" helping to shift from \"passive detection in adulthood\" to \"proactive management across the entire life course,\" and laid a foundation for improving early diagnosis rate and long-term quality of life for patients.</p>","PeriodicalId":39319,"journal":{"name":"中华医学遗传学杂志","volume":"43 3","pages":"188-196"},"PeriodicalIF":0.0,"publicationDate":"2026-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147595362","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Clinical phenotype and genetic analysis of a child with Autosomal dominant intellectual developmental disorder type 5 caused by SYNGAP1 gene variant: A case report and literature review].","authors":"Zihao Wang, Lifen Duan, Zhangxiang Wanyan, Ruixi Tao, Weitao Ye, Zhaoqing Yang","doi":"10.3760/cma.j.cn511374-20250616-00370","DOIUrl":"10.3760/cma.j.cn511374-20250616-00370","url":null,"abstract":"<p><strong>Objective: </strong>To delineate the clinical and genetic features of a Chinese girl harboring a rare de novo variant of SYNGAP1 associated with Mental retardation, autosomal dominant 5 (MRD5), and to conduct a comprehensive genotype-phenotype correlation analysis within the Chinese population through an extensive literature review.</p><p><strong>Methods: </strong>A 5-year-old girl presenting with seizures without an obvious cause was enrolled in September 2020. Genomic DNA was extracted from the patient and her parents. Whole exome sequencing (WES) was performed on the proband to identify suspected pathogenic variants based on her clinical phenotype. Sanger sequencing was used for validation, followed by bioinformatic analysis of the variant. Additionally, data from 54 previously reported Chinese cases with SYNGAP1 variants were integrated to summarize the distribution of variant types and clinical characteristics. Ethical approval was obtained from the Ethics Committee of Kunming Children's Hospital (Ethics No.: 2021-03-055-K01).</p><p><strong>Results: </strong>WES identified a heterozygous nonsense variant, SYNGAP1 c.725G>A (p.Trp242*), in the proband. Sanger sequencing confirmed it was a de novo variant. According to the ACMG guidelines, this variant was classified as pathogenic (PVS1+PS2). Based on the clinical manifestations, the patient was diagnosed with MRD5. Bioinformatic analysis suggested that this variant introduces a premature stop codon at tryptophan 242, disrupting the PH domain and leading to the loss of the C2, Ras-GAP, and C-terminal domains. The pooled analysis of Chinese cases revealed that nonsense (38.2%) and frameshift (36.4%) variants were the predominant types. Intellectual disability/developmental delay was present in 100.0% of patients, epilepsy in 83.6%, and autism spectrum disorder in 41.3%. The incidence of epilepsy differed significantly among variant types (P = 0.045). Exons 8 and 15 were identified as mutation hotspots.</p><p><strong>Conclusion: </strong>This study has identified a SYNGAP1 c.725G>A variant in the Chinese population and confirmed it as a potential cause of MRD5, which expanded the mutational spectrum of this disorder.</p>","PeriodicalId":39319,"journal":{"name":"中华医学遗传学杂志","volume":"43 3","pages":"213-219"},"PeriodicalIF":0.0,"publicationDate":"2026-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147595170","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Analysis of serological and molecular genetic characteristics of a Chinese pedigree with a B(A)06 subtype].","authors":"Dongdong Tian, Ding Zhao, Wei Li, Zhihao Li, Jiali Yang, Yongfang Zhang, Liuchuang Zheng","doi":"10.3760/cma.j.cn511374-20241020-00548","DOIUrl":"10.3760/cma.j.cn511374-20241020-00548","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Objective: &lt;/strong&gt;To explore the serological and molecular genetic characteristics of a family with subtype B(A)06.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;A neonatal hyperbilirubinemia patient who was treated at Henan Children's Hospital on June 15, 2023 due to \"yellowing of the skin and gradual aggravation\", and was found to have inconsistent ABO forward and reverse typing through blood type testing, was selected as the research subject. Six milliliters of peripheral blood were collected from the newborn and her family members (grandfather, grandmother, father, mother and aunt) respectively. ABO blood group identification was performed by the blood group serological method. Human genomic DNA was extracted using the nucleic acid extraction or purification reagent BT-01. ABO gene exons 2 to 7 were amplified by PCR. The PCR-specific products that were successfully amplified were sequenced by Sanger method. Taking ABO*A1.01 as the reference sequence, the ABO gene sequences of the newborn and her family members were analyzed to determine the ABO genotype. The procedures followed in this study were approved by the Ethics Committee of Henan Children's Hospital (Ethics No.: 2022-K-L036).&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;The serological results of ABO blood group showed that the newborn, her grandfather, father and aunt were all incompatible with the forward and reverse typing. The blood group phenotype of the newborn was AwB or B(A), the blood group phenotype of the grandfather was A2B or B(A), the blood group phenotype of the father and aunt were A2B, and the blood group phenotype of the grandmother and mother were both O. The screening test results of hemolytic disease of the newborn showed that the free test detected IgG anti-A1 antibody, while the elution test, direct antiglobulin test and antibody screening results were all negative. The Sanger sequencing results showed that the newborn had variations of c.261delG, c.297A&gt;G, c.526C&gt;G, c.657C&gt;T, c.703G&gt;A, c.796C&gt;A and c.930G&gt;A. Her grandfather had variations of c.297A&gt;G, C.526C&gt;G, c.657C&gt;T, c.703G&gt;A, c.796C&gt;A, c.803G&gt;C and c.930G&gt;A. Her grandmother had variations of c.106G&gt;T, c.188G&gt;A, c.189C&gt;T, c.220C&gt;T, c.261delG, c.297A&gt;G, c.646T&gt;A, c.681G&gt;A, c.771C&gt;T and c.829G&gt;A. Her father and aunt had variations of c.106G&gt;T, c.188G&gt;A, c.189C&gt;T, c.220C&gt;T, c.261delG, c.297A&gt;G, c.526C&gt;G, c.646T&gt;A, c.657C&gt;T, c.681G&gt;A, c.703G&gt;A, c.771C&gt;T, c.796C&gt;A, c.829G&gt;A and c.930G&gt;A. Her mother had variations of c.106G&gt;T, c.188G&gt;A, c.189C&gt;T, c.220C&gt;T, c.261delG, c.297A&gt;G, c.646T&gt;A, c.681G&gt;A, c.771C&gt;T, and c.829G&gt;A.The genotype of the newborn was ABO*BA.06/ABO*O.01.01, her grandfather was ABO*BA.06/ABO*B.01, her grandmother was ABO*O.01.02/ABO*O.01.02, her father and aunt were ABO*BA.06/ABO*O.01.02, and her mother was ABO*O.01.01/ABO*O.01.02. The ABO*BA.06 allele of the newborn, grandfather, father and aunt was caused by the c.803C&gt;G variation in exon 7 based on the ABO*B.01 allele. The ABO*BA.06 allele can be stably inher","PeriodicalId":39319,"journal":{"name":"中华医学遗传学杂志","volume":"43 3","pages":"220-227"},"PeriodicalIF":0.0,"publicationDate":"2026-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147595160","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Expert consensus on newborn genetic screening process, interpretation of results, and recall (2026 Edition)].","authors":"Genetic And Metabolic Disorders Screening Subgroup Of The Birth Defects Prevention And Control Committee Chinese Preventive Medicine Association, Rare Diseases Branch Of Shandong Medical Association, Genetic Metabolism Branch Of Shandong Provincial Rare Disease Association, Lianshu Han, Hui Zou","doi":"10.3760/cma.j.cn511374-20250922-00559","DOIUrl":"10.3760/cma.j.cn511374-20250922-00559","url":null,"abstract":"<p><p>High-throughput sequencing technology has recently been used in neonatal disease screening. To address the issues related to the screening process, interpretation of screening results, and recall of positive cases in neonatal genetic screening, this consensus has been formulated through discussions by experts from the National Neonatal Screening Group and other relevant fields. It has provided guidance to the genetic screening process, suggesting that both the personnel providing informed consent before blood collection and those responsible for recalling positive cases should have a basic understanding of genetic diseases, as well as the benefits and limitations of genetic screening. They are also advised to communicate this information effectively to the guardians of newborns. Regarding whether the genetic testing results should be interpreted as positive and whether positive cases need to be recalled, it is recommended that the determination should be made based on several key factors including the inheritance pattern of the genes, whether complementary biochemical or auditory screening has been conducted for the same condition, the possibility for false-negative results in biochemical screening, the possibility of late-onset manifestations, and the presence of pseudogenes. To enhance the practicality of this consensus, typical diseases of various categories are exemplified in accordance with the aforementioned principles for the interpretation of screening result and recall.</p>","PeriodicalId":39319,"journal":{"name":"中华医学遗传学杂志","volume":"43 3","pages":"171-179"},"PeriodicalIF":0.0,"publicationDate":"2026-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147595297","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Analysis of a child with Osteo-oto-hepato-enteric syndrome and a literature review].","authors":"Dandan Wang, Qianqian Li, Hongxiang Guo, Yongning Chen, Qingfei Hao, Yanlei Xu, Xiuyong Cheng","doi":"10.3760/cma.j.cn511374-20250912-00542","DOIUrl":"10.3760/cma.j.cn511374-20250912-00542","url":null,"abstract":"<p><strong>Objective: </strong>To analyze the phenotype and genotype of a neonate with Osteo-oto-hepato-enteric syndrome (O2HE) and review the literature.</p><p><strong>Methods: </strong>A female neonate diagnosed with O2HE syndrome on December 13, 2024 at the First Affiliated Hospital of Zhengzhou University was selected as the study subject, and her clinical characteristics were analyzed, and pathogenic variants were explored by whole exome sequencing (WES). This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: 2025-KY-1038).</p><p><strong>Results: </strong>The proband, a female infant, was delivered by Cesarean section at 36⁺¹ weeks of gestation. Five days after birth, she had developed severe diarrhea, mild cholestasis, sensorineural hearing loss, and growth retardation. WES revealed that she has harbored novel compound heterozygous variants c.512delA (p.Lys171Serfs*64) and c.698C>A (p.Thr233Asn) of the UNC45A gene, which were inherited from her mother and father, respectively. A total of 8 English papers were retrieved, which involved 16 patients from 14 families. Combined with our case, the 17 patients included 13 (76.5%) females and 4 (23.5%) males. Four patients (23.5%) had consanguineous parents. One case was excluded from further genetic analysis due to co-morbidity with other genetic variants. The primary clinical features included diarrhea (87.5%), cholestasis (81.3%), sensorineural hearing loss (31.3%), bone fragility (37.5%), and developmental delay (50.0%). Bi-allelic compound heterozygous mutations were identified in 12 patients (75.0%), and homozygous variants in 4 (25.0%). These included missense, nonsense, frameshift and deletional variants. The c.710T>C (p.Leu237Pro) variant was identified for 5 times, 3 of which were in homozygote forms.</p><p><strong>Conclusion: </strong>O2HE syndrome should be suspected in cases with diarrhea, cholestasis, and hearing abnormalities during early postnatal period. Genetic testing facilitate early identification, genetic diagnosis and treatment.</p>","PeriodicalId":39319,"journal":{"name":"中华医学遗传学杂志","volume":"43 3","pages":"204-212"},"PeriodicalIF":0.0,"publicationDate":"2026-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147595099","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}