中华医学遗传学杂志最新文献

{"title":"[Genetic analysis of a boy with congenital variant Rett syndrome due to a novel variant of FOXG1 gene and literature review].","authors":"Xin Li, Rong Qiang, Lin Wang, Yuan Liu, Xiaoyan Zhou, Rui Wang","doi":"10.3760/cma.j.cn511374-20250122-00050","DOIUrl":"10.3760/cma.j.cn511374-20250122-00050","url":null,"abstract":"<p><strong>Objective: </strong>To explore the clinical manifestations and genetic etiology of a boy with congenital variant Rett syndrome (RTT).</p><p><strong>Methods: </strong>A boy presented at the Medical Genetics Center of Northwest Women's and Children's Hospital in June 2023 due to \"mental retardation\" was selected as the study subject. Clinical data including history of birth, growth and development, and clinical manifestations were collected. Peripheral blood samples were collected from the boy and his parents. Following extraction of genomic DNA, whole-exome sequencing (WES) was carried out. Candidate variant was verified by Sanger sequencing. Pathogenicity of the variant was rated based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). Previous literature on male RTT caused by FOXG1 gene variants was retrieved from databases including China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform, PubMed, and the phenotypes of the included cases were summarized. This study was approved by the Ethics Committee of the hospital (Ethics No.: 21 -036).</p><p><strong>Results: </strong>The patient, a 6-year-old male, presented with microcephaly, mental retardation, and so forth. WES revealed that he has harbored a heterozygous c.761A>G (p.Tyr254Cys) variant of the FOXG1 gene. The variant was unreported previously. Sanger sequencing verified that the variant was de novo in origin. Based on the ACMG guidelines, the variant was classified as pathogenic (PM1+PS2_Moderate+PP2+PP3_Strong+PM2_Supporting). In total seven relevant articles were retrieved. Together with our case, a total of 10 male RTT patients were included for the analysis of clinical manifestations and genetic etiology.</p><p><strong>Conclusion: </strong>The heterozygous c.761A>G (p.Tyr254Cys) variant of the FOXG1 gene probably underlay the pathogenesis of male RTT in this patient. Above finding has enriched the mutational spectrum of the FOXG1 gene and facilitated understanding of the genotype-phenotype correlation of congenital variant RTT.</p>","PeriodicalId":39319,"journal":{"name":"中华医学遗传学杂志","volume":"43 5","pages":"372-378"},"PeriodicalIF":0.0,"publicationDate":"2026-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147844200","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":"[Molecular mechanism underlying an individual with with Ael subtype due to a novel p.Tyr264Cys variant of α-1, 3-N-acetylgalactosaminotransferase gene].","authors":"Yunlei He, Lu Yu, Di Niu, Jiwei Zhang","doi":"10.3760/cma.j.cn511374-20250515-00296","DOIUrl":"10.3760/cma.j.cn511374-20250515-00296","url":null,"abstract":"<p><strong>Objective: </strong>To explore the molecular mechanism underlying a novel Ael subtype due to a p.Tyr264Cys variant of the α-1, 3-N-acetylgalactosaminotransferase gene.</p><p><strong>Methods: </strong>The ABO blood type of the individual was confirmed by serological methods. All exons and adjacent intron regions of the ABO gene were amplified with PCR and sequenced. Prime-specific single-strand amplification and sequencing analysis were performed on the regions harboring the variant sites. Bioinformatics tools including Pymol, DUET, PolyPhen-2 and PROVEAN were used to analyze the effect of the novel variant on the structure and function of the enzyme.</p><p><strong>Results: </strong>The absorption and release test had detected extremely weak A antigen on the surface of red blood cells, confirming an Ael phenotype. Primer-specific haploid sequencing analysis revealed a c.791A>G missense variant on the A allele, which resulted in a p.Tyr264Cys amino acid change in the α-1,3-N-acetylgalactosaminotransferase. Molecular modeling revealed that the p.Tyr264Cys variant can weaken the local hydrogen bond network of the protein. Meanwhile, the predicted free energy change (ΔΔG) was negative, both suggesting a decrease in protein stability. PolyPhen-2 and PROVEAN respectively predicted the p.Tyr264Cys variant as probably damaging and deleterious.</p><p><strong>Conclusion: </strong>The novel p.Tyr264Cys variant of the α-1, 3-N-acetylgalactosaminotransferase may cause instability in the structure and function of the enzyme, leading to the Ael subtype.</p>","PeriodicalId":39319,"journal":{"name":"中华医学遗传学杂志","volume":"43 5","pages":"389-393"},"PeriodicalIF":0.0,"publicationDate":"2026-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147844159","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 of a de novo EFTUD2 variant causing Mandibulofacial dysostosis with microcephaly in a fetus].","authors":"Jianyu Ren, Xiaojiao Guan, Shuang Liu, Yousheng Yan, Shufa Yang","doi":"10.3760/cma.j.cn511374-20250716-00434","DOIUrl":"10.3760/cma.j.cn511374-20250716-00434","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the genetic etiology of a fetus diagnosed with Mandibulofacial dysostosis with microcephaly (MFDM).</p><p><strong>Methods: </strong>A fetus that underwent prenatal diagnosis at Beijing Obstetrics and Gynecology Hospital, Capital Medical University, on May 19, 2025 was selected for analysis. Results of fetal ultrasound findings, chromosomal karyotyping, copy number variation sequencing (CNV-seq), and whole-exome sequencing (WES) were collected. Sanger sequencing was performed for familial validation of the pathogenic variant. The Human Protein Atlas (HPA), STRING, and Simple ClinVar databases were queried to characterize the biological features of the candidate gene. Three-dimensional structures of the wild-type and variant proteins were modeled and analyzed, and the evolutionary conservation of the affected amino acid was assessed using UGENE. Prenatal phenotypes associated with EFTUD2 variants were summarized through a review of the literature. This study was approved by the Ethics Committee of Beijing Obstetrics and Gynecology Hospital, Capital Medical University (Ethics No.: 2025-KY-029-01).</p><p><strong>Results: </strong>At 23⁺² weeks of gestation, ultrasound examination revealed bilateral microtia with low-set ears, mild micrognathia with a reduced mandibular-facial angle, a single umbilical artery, a slightly narrow aortic diameter, and trivial mitral regurgitation. Amniotic fluid karyotyping and CNV-seq showed no abnormalities. WES identified a de novo, previously unreported EFTUD2 variant, c.698dupA (p.V235Gfs*27), in the fetus. This frameshift variant is predicted to alter the structural integrity of the EFTUD2 protein. Literature review indicated that micrognathia and microtia or low-set ears are the most common sonographic features in fetuses with EFTUD2 variants, while secondary findings may include abnormal stomach bubble, cleft palate, single umbilical artery, gastrointestinal atresia, polyhydramnios, and reduced aortic diameter.</p><p><strong>Conclusion: </strong>The EFTUD2: c.698dupA (p.V235Gfs*27) variant is likely the genetic cause underlying MFDM in this fetus.</p>","PeriodicalId":39319,"journal":{"name":"中华医学遗传学杂志","volume":"43 4","pages":"288-294"},"PeriodicalIF":0.0,"publicationDate":"2026-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147595353","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 ten cases of Acute lymphoblastic leukemia with non-KMT2A::AFF1 transcriptional variant 11q23 rearrangements].","authors":"Yuanyuan Wang, Shuzhen Fu, Yong Shen, Qingxia Xu","doi":"10.3760/cma.j.cn511374-20250729-00463","DOIUrl":"10.3760/cma.j.cn511374-20250729-00463","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Objective: &lt;/strong&gt;To analyze the clinical characteristics of patients with 11q23 rearrangement acute lymphoblastic leukemia (ALL) with non-KMT2A::AFF1 fusion genes.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;The clinical data of 10 patients with KMT2A fusion gene positive and partner gene non-AFF1 ALL admitted to Henan Cancer Hospital from December 2016 to December 2024 were retrospectively summarized. The immunophenotype, molecular genetic characteristics, clinical manifestations and disease prognosis of these patients were analyzed. This research has been approved by the Medical Ethics Committee of Henan Cancer Hospital (Ethics No.: 2019342).&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;Among the 10 patients, the fusion genes were KMT2A::MLLT1 in 7 cases, KMT2A::MLLT4, KMT2A::MLLT3 and KMT2A::MLLT10 in 1 case each. The European Group for the Immunological Classification of Leukemias (EGIL) classification included 6 cases of T-ALL, 2 cases of pro-B-ALL, 1 case of Common-B-ALL and 1 case of pre-B-ALL. 4 cases of B-ALL all expressed CD19, cCD79a, CD38 and HLA-DR, and some expressed CD34 and CD22, without expression or weak expression of CD10, without expression of CD20. One case was accompanied by myeloid marker CD15 expression. 6 cases of T-ALL all expressed CD34, CD7, most expressed CD38, and some expressed CD3, CD5, CD2, CD4 and CD8, and 1 case expressed CD4 and CD8 together. Chromosomal abnormalities were detected in 3 cases, 5 cases were positive for WT1 fusion gene, and 6 cases had gene alterations. 9 patients achieved the first complete remission (CR1) during chemotherapy, and 1 patient relapsed within 6 months after CR1. At the last follow up, 1 patient (the fusion gene was KMT2A::MLLT4) remained unrelieved. There were 2 cases of KMT2A rearrangement (KMT2A-r) persistent positive (+/+) and 8 cases of KMT2A-r negative (+/-). The overall survival (OS) rate and leukemia-free survival (LFS) rate of patients with KMT2A-r persistent positive were significantly lower than those of patients with negative change, and the differences were statistically significant (P values were all &lt; 0.05). Among the 3 patients who received chemotherapy+allogeneic hematopoietic stem cell transplantation (allo-HSCT), no relapse was observed until the follow up day. The OS rate and LFS rate of patients with KMT2A::MLLT1 and chemotherapy+allo-HSCT were higher than those of non-KMT2A::MLLT1 and single chemotherapy patients, and the differences were not statistically significant (P values were all ≥ 0.05). There was no significant difference in OS rate and LFS rate between T-ALL and B-ALL patients (P values were all ≥ 0.05). The median LFS time of the 10 patients was 32 (0 ~ 100) months, and the median OS time was 36 (1 ~ 101) months.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusion: &lt;/strong&gt;The 11q23 rearrangement ALL with non-KMT2A::AFF1 transcript is mainly KMT2A::MLLT1, T-ALL is more common, and the rate of chromosomal karyotype detection is relatively low. Persistent positive KMT2A-r is unfavorable ","PeriodicalId":39319,"journal":{"name":"中华医学遗传学杂志","volume":"43 4","pages":"265-272"},"PeriodicalIF":0.0,"publicationDate":"2026-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147595344","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":"[Incidental findings from cell-free fetal DNA-based non-invasive prenatal testing: Research progress on maternal tumors].","authors":"Zhuangping Zhang, Xinni Shu, Yaping Hou","doi":"10.3760/cma.j.cn511374-20251217-00727","DOIUrl":"10.3760/cma.j.cn511374-20251217-00727","url":null,"abstract":"<p><p>Non-invasive prenatal testing (NIPT) based on fetal free DNA is a non-invasive technique to screen for common fetal aneuploidies by analyzing cell-free fetal DNA (cffDNA) in the peripheral blood of pregnant women. This technique has opened a new era of prenatal screening for its high safety and reliability. In recent years, it has been shown that NIPT can not only screen for fetal aneuploidies, but may also reveal maternal genomic abnormalities. The incidental detection of maternal tumors has aroused widespread concern in the clinical settings. The aim of this review is to systematically summarize the research progress of NIPT technique in incidental detection of maternal tumors, and to discuss its clinical significance, technical challenges, and future development direction. It has been found that multiple chromosome aneuploidies (MCAs) in NIPT detection is one of the important biomarkers suggesting occult maternal malignant tumors. In this paper, the relevant progress of NIPT technique in the incidental discovery of maternal tumors were reviewed in order to provide a reference for individualized and standardized application of NIPT technique in maternal health monitoring.</p>","PeriodicalId":39319,"journal":{"name":"中华医学遗传学杂志","volume":"43 4","pages":"301-306"},"PeriodicalIF":0.0,"publicationDate":"2026-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147595365","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":"[Research on the screening efficiency of Thalassemia based on an automated evaluation software].","authors":"Jun Hu, Huan Liang, Limei Duan, Jianqiang Gao","doi":"10.3760/cma.j.cn511374-20251208-00709","DOIUrl":"10.3760/cma.j.cn511374-20251208-00709","url":null,"abstract":"<p><strong>Objective: </strong>To explore the efficacy of a Thalassemia risk assessment software for the screening of thalassemia mutation carriers and distribution of thalassemia genotypes detected by screening.</p><p><strong>Methods: </strong>A total of 6 040 individuals were evaluated at Leshan Maternal and Child Health Care Hospital between 2022 and 2024 using the commonly used clinical thalassemia risk assessment method and the thalassemia screening software, respectively, and the performance indicators of the two methods were compared and analyzed against the result of thalassemia gene testing. This study was approved by the Ethics Committee of our hospital (Ethics No.: LfyLL[2022]005).</p><p><strong>Results: </strong>The high-risk rate by the thalassemia screening software was 11.19%, with a sensitivity of 95.12%, specificity of 93.28%, positive predictive value of 43.20%, negative predictive value of 99.72%, and the area under the ROC curve (AUC) was 0.942. The thalassemia gene detection rate of the high-risk samples screened was 4.83%. The high-risk screening rate of the conventional method was 2.50%, with a sensitivity of 51.22%, specificity of 93.28%, positive predictive value of 80.79%, negative predictive value of 97.40%, and the AUC was 0.754. The thalassemia gene detection rate of the high-risk samples was 2.02%.</p><p><strong>Conclusion: </strong>The software can effectively detect thalassemia carriers and significantly reduce the missed detection compared with conventional method, thereby significantly improve the efficacy of screening.</p>","PeriodicalId":39319,"journal":{"name":"中华医学遗传学杂志","volume":"43 4","pages":"281-287"},"PeriodicalIF":0.0,"publicationDate":"2026-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147595295","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":"[A fetus with Neurodevelopmental disorders with deformed facial features and distal skeletal abnormalities due to a rare variant of ZMIZ1 gene and literature review].","authors":"Jinghui Zou, Haibo Li, Lulu Yan","doi":"10.3760/cma.j.cn511374-20251129-00693","DOIUrl":"10.3760/cma.j.cn511374-20251129-00693","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the clinical manifestations and genetic etiology of a fetus with Neurodevelopmental disorders with deformed facial features and distal skeletal abnormalities (NEDDFSA).</p><p><strong>Methods: </strong>Clinical data of a NEDDFSA fetus diagnosed at the Affiliated Women and Children's Hospital Affiliated to Ningbo University in March 2025 was selected as the study subject. Whole-exome sequencing (WES) was carried out on the amniotic fluid and parental peripheral blood samples, and candidate variants was verified by Sanger sequencing. The pathogenicity of candidate variant was rated based on guidelines from the American College of Medical Genetics and Genomics (ACMG). This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: EC2023-094).</p><p><strong>Results: </strong>At 30 weeks of gestation, the fetus was found to have microcephaly, short femur and intrauterine growth restriction. WES revealed that the fetus harbored a de novo heterozygous frameshift variant c.2633dup (p.Gly879ArgfsTer22) of the ZMIZ1 gene, which was rated as pathogenic (PM2_Supporting+PS2_Supporting+PVS1). Combined with 25 cases from the literature, the main manifestations of patients have included intellectual disability, growth retardation and cranio-limb skeletal dysplasia, albeit without clear genotype-phenotype correlation.</p><p><strong>Conclusion: </strong>The de novo variant c.2633dup (p.Gly879ArgfsTer22) of the ZMIZ1 gene probably underlay the NEDDFSA in this fetus. Genetic testing has enabled accurate prenatal diagnosis and provided evidence for genetic counseling and reproductive guidance of this family.</p>","PeriodicalId":39319,"journal":{"name":"中华医学遗传学杂志","volume":"43 4","pages":"295-300"},"PeriodicalIF":0.0,"publicationDate":"2026-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147595383","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":"[Research advances in Infantile liver failure syndrome].","authors":"Jiaxin Ma, Ji Qi, Yumei Li","doi":"10.3760/cma.j.cn511374-20260118-00030","DOIUrl":"10.3760/cma.j.cn511374-20260118-00030","url":null,"abstract":"<p><p>Pediatric acute liver failure (PALF) is a rare and critical clinical syndrome with a poor prognosis. Its etiology is complex, with a significant proportion of cases having remained classified as indeterminate or cryptogenic PALF. With the application of high-throughput sequencing technologies, a spectrum of disorders caused by specific genetic metabolic defects and characterized by stress-sensitive Recurrent acute liver failure (RALF) has been gradually unveiled, collectively termed Infantile liver failure syndrome (ILFS). Although the molecular mechanisms underlying the subtypes ILFS1, ILFS2, and ILFS3 differ by involving aminoacyl-tRNA synthetase defects, vesicular transport disorders, and autophagy abnormalities, respectively, they share a common clinical phenotype of RALF triggered by fever or infection. This article has systematically reviewed the clinical phenotypic spectrum, molecular genetic characteristics, differential diagnosis strategies, and therapeutic advances of the three ILFS subtypes, with the goal of improving early clinical recognition and precise intervention, and providing an important reference for evaluating the prognosis of different subtypes.</p>","PeriodicalId":39319,"journal":{"name":"中华医学遗传学杂志","volume":"43 4","pages":"312-317"},"PeriodicalIF":0.0,"publicationDate":"2026-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147595350","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":"[Implication of newborn Short-chain Acyl-CoA dehydrogenase deficiency screening and follow-up in Hainan Province for newborn screening strategies].","authors":"Peizhen Zhao, Zhendong Zhao, Haizhu Xu","doi":"10.3760/cma.j.cn511374-20250611-00358","DOIUrl":"10.3760/cma.j.cn511374-20250611-00358","url":null,"abstract":"<p><strong>Objective: </strong>To elucidate the epidemiological characteristics and genetic variant profile of Short-chain acyl-CoA dehydrogenase deficiency (SCADD) among newborns from Hainan Province and evaluate its significance within the local neonatal disease screening panel.</p><p><strong>Methods: </strong>A total of 84 184 newborns born in Hainan Province from February to December 2024 were included. Tandem mass spectrometry (MS/MS) was employed to detect butyrylcarnitine (C4) and propionylcarnitine (C3) levels in dried blood spots. Screening thresholds were set at C4 > 0.43 μ mol/L and C4/C3 ratio > 0.28. Suspected cases underwent confirmatory testing via urinary ethylmalonic acid analysis by gas chromatography-mass spectrometry and whole-exome sequencing for ACADS gene variants. This study was approved by the Medial Ethics Committee of the hospital (Ethics No.: HNWCMC-2024-55).</p><p><strong>Results: </strong>Six SCADD cases (male-to-female ratio = 1:1) were diagnosed, with all carrying compound heterozygous variants at two loci, yielding a prevalence of 7.13 per 100,000 live births. Four known ACADS gene variants were identified, with both c.322G>A and c.625G>A detected at a frequency of 41.7%. Regular follow-up (as of January 2026) revealed that all diagnosed cases have remained asymptomatic with normal growth and development.</p><p><strong>Conclusion: </strong>The prevalence of SCADD among newborns in Hainan Province is relatively high, with c.322G>A and c.625G>A as the hotspot variants in the region. Given the absence of clinical phenotypes in all screen-detected cases during long-term follow-up, it is recommended to remove this condition from the routine neonatal screening program for this region to reduce unnecessary anxiety and medical cost.</p>","PeriodicalId":39319,"journal":{"name":"中华医学遗传学杂志","volume":"43 4","pages":"248-252"},"PeriodicalIF":0.0,"publicationDate":"2026-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147595371","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 and genetic analysis of children with Silver-Russell syndrome].","authors":"Liming Zhang, Guimei Pan, Dongxia Fu, Xue Wu, Yongxing Chen","doi":"10.3760/cma.j.cn511374-20251226-00751","DOIUrl":"10.3760/cma.j.cn511374-20251226-00751","url":null,"abstract":"<p><strong>Objective: </strong>To summarize the clinical and genetic characteristics of children with Silver-Russell syndrome (SRS) and improve the recognition of this disease.</p><p><strong>Methods: </strong>A retrospective analysis was conducted on the clinical manifestations and genetic testing results of 29 children with SRS diagnosed at the Children's Hospital Affiliated to Zhengzhou University between March 2016 and June 2025.</p><p><strong>Results: </strong>The 29 children had included 18 boys and 11 girls, with the age ranging from 2 months to 16 years. Their primary clinical manifestations included postnatal growth retardation (100%), small for gestational age (SGA) (100%), characteristic facial features (90%), limb asymmetry (83%), feeding difficulties (76%), ulnar deviation of the fifth finger (69%), body mass index (BMI) of < -2 SD (62%), and abnormal bone age (55%), including 15 cases with delayed bone age for an average of 1.5 years and 1 case with advanced bone age for 2.5 years. Additional manifestations included abnormal sexual development in 11 cases (38%), dental malocclusion in 11 cases (38%), allergic diseases in 10 cases (34%), cardiac diseases in 9 cases (31%), skeletal abnormalities in 7 cases (24%), renal hypoplasia in 5 cases (17%), and abnormal cranial MRI findings in 5 cases (17%). Twenty children were treated with recombinant human growth hormone (rhGH) at a dose of 0.1 ~ 0.15 U/(kg.d). Among them, 7 cases achieved annual height increase of ≥ 10 cm, 11 cases achieved annual height increase of ≥ 5 ~ 9 cm, and 2 cases achieved annual height increase < 5 cm. Twenty three children exhibited hypomethylation of imprinted genes in the chromosome region of 11p15, 4 presented maternal uniparental disomy of chromosome 7 [UPD(7)mat], and 2 had harbored nonsense variants of the HMGA2 gene.</p><p><strong>Conclusion: </strong>SRS patients may present with diverse clinical manifestations including postnatal growth retardation, SGA, characteristic facial features, limb asymmetry, feeding difficulties, and ulnar deviation of the fifth finger. Most patients may exhibit abnormal methylation in the 11p15 region. rhGH therapy can improve the height of these patients.</p>","PeriodicalId":39319,"journal":{"name":"中华医学遗传学杂志","volume":"43 4","pages":"259-264"},"PeriodicalIF":0.0,"publicationDate":"2026-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147595329","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}