دورية أكاديمية
[Genetic analysis of a Chinese pedigree affected with Brachydactyly type B1 due to a novel variant of ROR2 gene].
| العنوان: | [Genetic analysis of a Chinese pedigree affected with Brachydactyly type B1 due to a novel variant of ROR2 gene]. |
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| المؤلفون: | Ren H; Genetic Testing Center, the Women and Children's Hospital Affiliated to Qingdao University, Qingdao, Shandong 266034, China. renhuiying7812@126.com., Zhao W, Jiang N, Li S |
| المصدر: | Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2024 May 10; Vol. 41 (5), pp. 561-564. |
| نوع المنشور: | English Abstract; Journal Article |
| اللغة: | Chinese |
| بيانات الدورية: | Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print) Linking ISSN: 10039406 NLM ISO Abbreviation: Zhonghua Yi Xue Yi Chuan Xue Za Zhi Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: <2004->: Chengdu, Sichuan, P.R. China : Sichuan University Original Publication: Chengdu : Hua xi yi ke da xue, |
| مواضيع طبية MeSH: | Brachydactyly*/genetics , Receptor Tyrosine Kinase-like Orphan Receptors*/genetics, Adult ; Female ; Humans ; Male ; China ; East Asian People/genetics ; Exome Sequencing ; Mutation ; Pedigree |
| مستخلص: | Objective: To explore the genetic basis for a Chinese pedigree affected with Brachydactyly type B1 (BDB1) through whole exome sequencing (WES). Methods: A BDB1 pedigree admitted to the Affiliated Women and Children's Hospital of Qingdao University on June 25, 2021 was selected as the study subject. Clinical data of the pedigree was collected with informed consent. WES was carried out for the proband, and candidate variant was verified by Sanger sequencing and bioinformatic analysis. Results: WES and Sanger sequencing had identified a heterozygous c.2257delT variant in the ROR2 gene of the proband and his affected father, which has conformed to an autosomal dominant pattern of inheritance. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified to be likely pathogenic (PVS1_Strong+PM2 Supporting+PP4). Conclusion: The c.2257delT variant of the ROR2 gene was unreported previously and is strongly correlated with the BDB1-like phenotype in this pedigree. Above finding has enriched the mutational spectrum of the ROR2 gene and facilitated the diagnosis and genetic counseling for this pedigree. |
| المشرفين على المادة: | EC 2.7.10.1 (Receptor Tyrosine Kinase-like Orphan Receptors) EC 2.7.10.1 (ROR2 protein, human) |
| تواريخ الأحداث: | Date Created: 20240429 Date Completed: 20240429 Latest Revision: 20240430 |
| رمز التحديث: | 20240501 |
| DOI: | 10.3760/cma.j.cn511374-20230507-00267 |
| PMID: | 38684301 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1003-9406 |
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| DOI: | 10.3760/cma.j.cn511374-20230507-00267 |