中华医学遗传学杂志最新文献

{"title":"[Identification and clinical implication of a novel variant of SPAG17 gene resulting in Familial severe asthenozoospermia].","authors":"Li Wang, Ling Huang, Yunjie Shang, Jinli Luo, Zuoxi Luo, Li Shi, Guangmei Xie","doi":"10.3760/cma.j.cn511374-20250822-00503","DOIUrl":"https://doi.org/10.3760/cma.j.cn511374-20250822-00503","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the association between SPAG17 gene variant and Familial severe asthenozoospermia, and to assess its impact on the outcome of intracytoplasmic sperm injection (ICSI).</p><p><strong>Methods: </strong>Two siblings (Probands 1 and 2) with severe asthenozoospermia from a Chinese family who presented at the Reproductive Medicine Center II of Gansu Maternity and Child Health Care Hospital (Gansu Provincial Central Hospital) in May 2023 were selected as study subjects. Clinical data were collected, and sperm morphology and ultrastructure (assessed by transmission electron microscopy) were analyzed. Pathogenic variants were screened using whole exome sequencing (WES) and verified by Sanger sequencing. This study was approved by the Medical Ethics Committee of Gansu Maternity and Child Health Care Hospital (Ethics No.: 2023GSFYLS78).</p><p><strong>Results: </strong>Probands 1 and 2 had primary infertility for 10 and 3 years, respectively, and both exhibited normal semen concentration, but the percentage of progressive motile sperm (PR) was significantly lower than the normal reference value (> 32.00%), measuring 2.33% ± 0.58% and 0.80% ± 0.45%, respectively. Additionally, the percentage of sperms with normal morphology was slightly below the reference range (> 4.00%), with the values of 3.36% ± 0.35% and 2.93% ± 1.36%. Both probands were found to harbor homozygous c.2188C>T (p.Q730*) nonsense variant of the SPAG17 gene (NM_206996.4), for which their mother was a heterozygous carrier (their father had already deceased). Both sibs underwent ICSI treatment using a long gonadotropin-releasing hormone agonist protocol during the follicular phase combined with assisted oocyte activation (AOA). The wife of Proband 1 ultimately gave birth to a healthy girl, whilst the wife of Proband 2 delivered two healthy girls.</p><p><strong>Conclusion: </strong>The homozygous c.2188C>T (p.Q730*) nonsense variant of the SPAG17 gene is closely related with the severe asthenozoospermia phenotype. Live births can be achieved through ICSI combined with AOA technology, though the overall utilizable embryo rate may be relatively low.</p>","PeriodicalId":39319,"journal":{"name":"中华医学遗传学杂志","volume":"42 8","pages":"918-923"},"PeriodicalIF":0.0,"publicationDate":"2025-08-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145276238","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 fetus with a novel mutation of OTX2 gene].","authors":"Ying Zhou, Yuxin Zhang, Lulu Yan, Changshui Chen, Haibo Li","doi":"10.3760/cma.j.cn511374-20250217-00077","DOIUrl":"https://doi.org/10.3760/cma.j.cn511374-20250217-00077","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the clinical characteristics and genetic etiology of a fetus with bilateral ear malformation and microphthalmia.</p><p><strong>Methods: </strong>A fetus diagnosed with Syndromic Microphthalmia 5 (MCOPS5) on January 29, 2024 at Ningbo Women and Children's Hospital was selected as the study subject. A retrospective study was conducted to collect clinical data. Peripheral blood samples (3 mL) were collected from the parents, and amniotic fluid (10 mL) was obtained from the fetus. Genomic DNA was extracted and subjected to whole-exome sequencing (WES). Candidate variants were validated by Sanger sequencing of the family members. The pathogenicity of the candidate variant was classified according to the guidelines from the American College of Medical Genetics and Genomics (ACMG). This study was approved by the Ethics Committee of Ningbo Women and Children's Hospital (Ethics No.: EC2023-094).</p><p><strong>Results: </strong>The gestational age of the fetus was 23⁺² weeks. Prenatal magnetic resonance imaging (MRI) revealed hypoplastic left external ear, bilateral reduced eyeball volume, and abnormal brain parenchyma development. WES has identified a heterozygous frameshift variant in the OTX2 gene (NM_021728.4: c.706_725del, p.Thr236ProfsTer17). Sanger sequencing confirmed that neither parent has carried the same variant, indicating a de novo origin. According to the ACMG guidelines, this variant was classified as likely pathogenic (PVS1_Strong+PM2_Supporting+PS2_Supporting).</p><p><strong>Conclusion: </strong>The heterozygous frameshift variant (NM_021728.4: c.706_725del) of the OTX2 gene probably underlay the pathogenesis of this fetus. Above finding has expanded the mutational spectrum of OTX2 gene and may contribute to the understanding of syndromic microphthalmia.</p>","PeriodicalId":39319,"journal":{"name":"中华医学遗传学杂志","volume":"42 8","pages":"1011-1015"},"PeriodicalIF":0.0,"publicationDate":"2025-08-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145276199","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 study on the conversion between SMN1 and SMN2 genes].","authors":"Qiannan Guo, Guiyu Lou, Li Wang, Hongdan Wang, Shixiu Liao","doi":"10.3760/cma.j.cn511374-20240531-00320","DOIUrl":"https://doi.org/10.3760/cma.j.cn511374-20240531-00320","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the steady-state mechanism of interconversion between the SMN1 and SMN2 genes in a normal population.</p><p><strong>Methods: </strong>Fluorescence PCR capillary electrophoresis was employed to assess gene conversion and copy number variation of SMN1 and SMN2 in a cohort of 1,133 healthy individuals (including 256 males and 877 females) recruited between 2019 and 2023. This study was approved by the Ethics Committee of Henan Provincial People's Hospital (Ethics No.: 2019-134).</p><p><strong>Results: </strong>No significant gender difference was observed in the single copy carrying rate of SMN1. The probability of conversion from SMN1 to SMN2 was determined to be 3.2% for females, 2.7% for males, and 3.1% for the overall population. The probability of conversion from SMN2 to SMN1 was found to be 5.5% for females, 6.3% for males, and 5.6% for the overall population. No statistically significant difference was found in the conversion probability between different genders (P > 0.05). Among the 99 cases of gene conversion, the SMN1 gene predominantly exhibited a copy number of 2 (97.0%), with the remainder having 3 copies (3%). The SMN2 gene primarily showed a copy number of 2 (72.7%), with the rest having 1 copy (27.3%).</p><p><strong>Conclusion: </strong>Gene conversion tends to normalize the copy numbers of both SMN1 and SMN2 genes towards 2. However, SMN1 exhibited a higher priority over SMN2, causing the copy numbers approaching two.</p>","PeriodicalId":39319,"journal":{"name":"中华医学遗传学杂志","volume":"42 8","pages":"937-942"},"PeriodicalIF":0.0,"publicationDate":"2025-08-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145276252","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 case of mosaicism involving trisomy 21, maternal uniparental isodisomy, and normal diploid cells: Challenges and reflections in prenatal diagnosis].","authors":"Chenxia Xu, Xingsheng Dong, Yi Xiong, Degang Wang","doi":"10.3760/cma.j.cn511374-20250225-00108","DOIUrl":"https://doi.org/10.3760/cma.j.cn511374-20250225-00108","url":null,"abstract":"<p><strong>Objective: </strong>To report on a case of mosaicism involving trisomy 21, maternal uniparental isodisomy, and normal diploid cells in uncultured amniocytes, and to explore the discrepancies between conventional cytogenetic and molecular cytogenetic techniques during prenatal diagnosis.</p><p><strong>Methods: </strong>A 30-year-old pregnant woman who presented to Boai Hospital of Zhongshan on June 27, 2023 has undergone amniocentesis at 16 weeks of gestation. The amniotic fluid sample was subjected to quantitative fluorescent PCR (QF-PCR), G-banded karyotype analysis, and chromosomal microarray analysis (CMA). The discrepancies between the results of each method were analyzed. This study was approved by Medical Ethics Committee of Boai Hospital of Zhongshan (Ethics No.: KY-2024-001-01).</p><p><strong>Results: </strong>Non-invasive prenatal testing (NIPT) at 12 weeks indicated a high risk of trisomy 21. QF-PCR of uncultured amniocytes revealed a pattern of trisomy 21. After one week of cell culture, G-banding analysis showed mos 47,XX,+21[1]/46,XX[72]. CMA revealed a homozygous state of chromosome 21 in cultured cells, while uncultured amniocytes showed mosaic trisomy 21 with an estimated proportion of 50%. These findings suggested a complex chromosomal mosaicism in the fetus, which may result from a trisomy rescue event during early embryogenesis, leading to coexistence of three cell lines including trisomy 21, maternal uniparental isodisomy, and normal diploid cells.</p><p><strong>Conclusion: </strong>In prenatal diagnosis, discrepancies may arise between QF-PCR and conventional chromosomal karyotyping analysis, particularly in complex genetic phenomena such as trisomy rescue and uniparental disomy. For cases where NIPT indicated a high risk of trisomy 21 but G-banding karyotype analysis yielded a normal result, further molecular genetic testing using uncultured cells is recommended.</p>","PeriodicalId":39319,"journal":{"name":"中华医学遗传学杂志","volume":"42 8","pages":"1006-1010"},"PeriodicalIF":0.0,"publicationDate":"2025-08-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145276271","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 case with oocyte maturation disorder caused by a heterozygous c.728C>T (p.P243L) missense variant of TUBB8 gene and literature review].","authors":"Wei Jiang, Yali Ni, Jinwei Yang, Bo Yan, Chuan Zhang, Zhiqiang Wang","doi":"10.3760/cma.j.cn511374-20241023-00553","DOIUrl":"https://doi.org/10.3760/cma.j.cn511374-20241023-00553","url":null,"abstract":"<p><strong>Objective: </strong>To explore the genetic basis for a woman with oocyte maturation disorder during assisted reproductive treatment (ART), and to verify the source of the variant and its impact on oocyte maturation through family verification.</p><p><strong>Methods: </strong>A 35-year-old infertile woman presented at the Reproductive Medicine Center of Gansu Provincial Maternal and Child Health Care Hospital on 20 October 2023 for a 10-year history of infertility despite unprotected intercourse was selected as study subject. Peripheral venous blood sample was collected from the proband. Next-generation sequencing (NGS) was used to detect the potential variant. Candidate variants were validated within her family by Sanger sequencing, and their deleteriousness was assessed with comprehensive bioinformatic analyses to elucidate their origin and impact on oocyte maturation. According to the Standards and Guidelines for the Interpretation of Sequence Variants (hereinafter referred to as ACMG Guidelines) formulated by the American College of Medical Genetics and Genomics (ACMG), the pathogenicity of the candidate variant was rated. This study was approved by the Medical Ethics Committee of Gansu Provincial Maternal and Child Health Care Hospital (Ethics No.: 2023GSFYLS78).</p><p><strong>Results: </strong>The proband underwent three controlled ovarian-stimulation cycles as part of assisted reproductive technology, yielding a total of 29 oocytes, among which only three were mature, whilst the remainders exhibited maturation arrest. Targeted sequencing of peripheral-blood DNA revealed a heterozygous c.728C>T (p.P243L) missense variant of the TUBB8 gene. While the same variant was detected in the proband's father. Based on the ACMG guidelines, the variant was classified to be likely pathogenic (PS4_Supporting+PM2_Supporting+PP2+PP3+PP4).</p><p><strong>Conclusion: </strong>The heterozygous c.728C>T (p.P243L) missense variant of the TUBB8 gene probably underlay the oocyte maturation disorder in the proband, which may be either autosomal dominant or autosomal recessive. For probands with oocyte maturation disorders caused by the heterozygous c.728C>T variant of the TUBB8 gene, oocyte donation may be considered.</p>","PeriodicalId":39319,"journal":{"name":"中华医学遗传学杂志","volume":"42 8","pages":"924-930"},"PeriodicalIF":0.0,"publicationDate":"2025-08-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145276290","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 a child with Stargardt disease type 1 caused by novel compound heterozygous variants of the ABCA4 gene].","authors":"Min Zhang, Yudie Ning, Tao Huang, Junfeng Lv, Xiaohe Yan","doi":"10.3760/cma.j.cn511374-20250311-00148","DOIUrl":"https://doi.org/10.3760/cma.j.cn511374-20250311-00148","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the clinical features and pathogenesis of a child with Stargardt disease caused by variants of ABCA4 gene.</p><p><strong>Methods: </strong>A child presented at Shenzhen Eye Hospital between September 5, 2020, and April 3, 2023 was selected as the study subject. Clinical data of the child were collected. Whole exome sequencing was performed on peripheral blood samples from the child and his parents. Candidate variants were validated by Sanger sequencing and bioinformatic analysis. This study was approved by the Medical Ethics Committee of Shenzhen Eye Hospital (Ethics No.: 2022KYPJ072).</p><p><strong>Results: </strong>The child was a 10-year-old male presenting with uncorrected visual acuity of 0.1 in both eyes without improvement with refractive correction. Fundus photography showed diffusely distributed yellow-white flecks in the macular region. FAF revealing central hypofluorescence surrounded by a hyperfluorescent ring, and OCT demonstrating significant foveal thinning (right eye: 45 μm; left eye: 50 μm) with ellipsoid zone disruption. Whole exome sequencing and Sanger sequencing revealed that the child has harbored compound heterozygous variants of the ABCA4 gene, namely c.2384G>T (p.Gly795Val) and c.2903G>A (p.Arg968Glu), which were inherited from his phenotypically normal parents and consistent with an autosomal recessive inheritance. This specific combination of the variants was previously unreported. According to the guidelines from the American College of Medical Genetics and Genomics (ACMG) guidelines, both variants were classified as likely pathogenic (PM2_Supporting+PM3+PP3+PP4; PM1+PM2_Supporting+PP3+PP4).</p><p><strong>Conclusion: </strong>The novel compound heterozygous variants of the ABCA4 gene probably underlay the genetic etiology of Stargardt disease type 1 in this child. Above finding has expanded the mutational spectrum of the ABCA4 gene among the Chinese population and provided further evidence for understanding the genetic heterogeneity and genotype-phenotype correlation of the Stargardt disease.</p>","PeriodicalId":39319,"journal":{"name":"中华医学遗传学杂志","volume":"42 8","pages":"974-980"},"PeriodicalIF":0.0,"publicationDate":"2025-08-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145276245","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 child with X-linked familial Behcet-like autoinflammatory syndrome-2 due to variant of ELF4 gene].","authors":"Yijing Liu, Fang Zhou, Zhiyi Xia, Bingjie Quan","doi":"10.3760/cma.j.cn511374-20250211-00069","DOIUrl":"https://doi.org/10.3760/cma.j.cn511374-20250211-00069","url":null,"abstract":"<p><strong>Objective: </strong>To explore the clinical and genetic characteristics of a boy with X-linked familial Behcet-like autoinflammatory syndrome-2 (AIFBL2).</p><p><strong>Methods: </strong>A boy who was admitted to Children's Hospital Affiliated to Zhengzhou University in December 2023 due to recurrent oral ulcers for 2 years, intermittent abdominal pain and fever for more than 1 year was selected as the study subject. Clinical data of the patient was collected. Whole exome sequencing (WES) was carried out, and candidate variant was verified by Sanger sequencing and bioinformatic analysis. A literature search was conducted in OMIM, PubMed, Wanfang Data Knowledge Service Platform, China Biomedical Literature Service System, and the VIP database using the keywords \"ELF4 gene\" \"deficiency in ELF4, X-linked\" \"ELF4 deficiency\" and \"DEX\" to identify recently published studies. This study was approved by the Medical Ethics Committee of the Children's Hospital Affiliated to Zhengzhou University (Ethics No.: 2023-H-K44).</p><p><strong>Results: </strong>The patient, a 12-year-old male, presented with recurrent mouth ulcers, fever and abdominal pain. Lymphocyte subsets showed a significant decrease in NK cells. Abdominal CT showed thickening of local intestinal wall in the lower right abdomen. Colonoscopy revealed a solitary deep longitudinal ulcer in the ileocecal region. Genetic testing revealed a hemizygote missense variant c.687C>G, with his mother showing the same mutation at this locus. According to the guidelines of the American College of Medical Genetics and Genomics (ACMG), the variant was considered likely pathogenic (PP1+PP2+PM2_Supporting+PP3+PP4). Literature review has found 19 AIFBL2 patients including 1 patient from this study. Mouth ulcer, fever, rash and abdominal pain were the primary clinical manifestations, for which genetic testing is the main diagnostic method.</p><p><strong>Conclusion: </strong>The hemizygote c.687C>G missense variant of the ELF4 gene probably underlay the AIFBL2 in this child, which has provided a basis for his clinical diagnosis and genetic counseling.</p>","PeriodicalId":39319,"journal":{"name":"中华医学遗传学杂志","volume":"42 8","pages":"991-998"},"PeriodicalIF":0.0,"publicationDate":"2025-08-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145276253","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":"[The pleiotropic role of X-linked SMPX gene mutations: Exploration of mechanism from deafness to myopathy].","authors":"Haiming Gao, Rong He","doi":"10.3760/cma.j.cn511374-20250527-00331","DOIUrl":"10.3760/cma.j.cn511374-20250527-00331","url":null,"abstract":"<p><p>The SMPX (small muscle protein X-linked) gene encodes a small-molecular-weight protein that is mainly expressed in skeletal and cardiac muscles and is involved in cytoskeletal dynamics and mechanical stress responses. In recent years, missense variants of the SMPX gene have been identified as the cause of a novel X-linked distal myopathy (Distal myopathy 7). This article has systematically reviewed the molecular functions, variant types, and pathological mechanisms of the SMPX gene by integrating its clinical classification, molecular pathological evidence, and experimental model data, and revealed its pathgenetic mechanism through protein aggregation, dynamic dysregulation of stress granules, abnormal Rac1/p38 signaling pathways, and future research directions.</p>","PeriodicalId":39319,"journal":{"name":"中华医学遗传学杂志","volume":"42 7","pages":"890-895"},"PeriodicalIF":0.0,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145065989","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 the clinical diagnosis and treatment of Congenital macrodactyly (2025 Edition)].","authors":"Hand Plastic Surgery Committee Aesthetic And Plastic Surgeon Branch Of Chinese Medical Doctor Association, Clinical Genetics Group Medical Geneticist Branch Of Chinese Medical Doctor Association, Pediatric Plastic Surgery Group Plastic Surgery Branch Of Chinese Medical Association, Rehabilitation Assistive Devices Committee Chinese Association Of Rehabilitation Medicine, Bin Wang, Lingqian Wu","doi":"10.3760/cma.j.cn511374-20250518-00304","DOIUrl":"10.3760/cma.j.cn511374-20250518-00304","url":null,"abstract":"<p><p>Macrodactyly is a congenital malformation characterized by overgrowth of soft tissues and bones in limbs. Pathological adipose infiltration is the most common manifestation, often involving the median nerve and digital nerves, and may progress aggressively. At the same time, some patients may show abnormal bone hyperplasia, causing the fingers to deviate and limiting joint mobility. Although surgery can reduce the symptoms of the affected limb to a certain extent, the recurrence rate is high, often leading to the serious consequence of amputation. It has been confirmed that the occurrence of macrodactyly is closely related to gain-of-function mutation of PIK3CA and belongs to the \"PIK3CA-related overgrowth spectrum\". Targeted regulation of the PI3K/AKT/mTOR pathway is becoming an important treatment method. To enhance the understanding of this disease, promote the establishment of a precise diagnosis and treatment system for macrodactyly, and improve the prognosis of the disease, the Hand Plastic Surgery Committee of the Aesthetic and Plastic Surgeon Branch of Chinese Medical Doctor Association, Clinical Genetics Group of Medical Geneticist Branch of Chinese Medical Doctor Association, the Pediatric Plastic Surgery Group of Plastic Surgery Branch of Chinese Medical Association, and the Assistive Devices Application Committee of Chinese Rehabilitation Medicine Association have convened experts from well-known medical colleges and their affiliated hospitals across China to formulate this consensus, with an aim to promote in-depth research, precise diagnosis and treatment, and rehabilitation of macrodactyly.</p>","PeriodicalId":39319,"journal":{"name":"中华医学遗传学杂志","volume":"42 7","pages":"810-819"},"PeriodicalIF":0.0,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145065801","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 the clinical diagnosis and treatment of Congenital syndactyly (2025 Edition)].","authors":"Hand Plastic Surgery Committee Aesthetic And Plastic Surgeon Branch Of Chinese Medical Doctor Association, Clinical Genetics Group Medical Geneticist Branch Of Chinese Medical Doctor Association, Pediatric Plastic Surgery Group Plastic Surgery Branch Of Chinese Medical Association, Assistive Devices Application Committee Chinese Rehabilitation Medicine Association, Bin Wang, Lingqian Wu","doi":"10.3760/cma.j.cn511374-20250517-00301","DOIUrl":"10.3760/cma.j.cn511374-20250517-00301","url":null,"abstract":"<p><p>Syndactyly is one of the most common congenital malformations of the hand/foot, characterized by varying degrees of soft tissue and/or skeletal fusion between adjacent fingers or toes. It may also occur alongside polydactyly, camptodactyly, brachydactyly, or congenital joint fusion. The heterogeneity in its clinical phenotypes and incomplete penetrance makes it challenging to establish clear diagnostic and treatment protocols/procedures. Conventionally, the management of syndactyly has mainly relied on clinical experience, with limited reference to cutting-edge genetic research and systematic treatment strategies. To standardize the diagnosis and treatment of syndactyly and update the treatment protocols, a consensus has been developed by experts from the Hand Plastic Surgery Committee of the Aesthetic and Plastic Surgeon Branch of Chinese Medical Doctor Association, Clinical Genetics Group of the Medical Geneticist Branch of Chinese Medical Doctor Association, Pediatric Plastic Surgery Group of Plastic Surgery Branch of Chinese Medical Association, and Assistive Devices Application Committee of the Chinese Rehabilitation Medicine Association, and leading universities and hospitals across China. This expert consensus, incorporating both clinical and genetic research, as well as recent international and domestic findings, aims to serve as a reference for clinicians.</p>","PeriodicalId":39319,"journal":{"name":"中华医学遗传学杂志","volume":"42 7","pages":"789-801"},"PeriodicalIF":0.0,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145065792","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}