دورية أكاديمية
[Analysis of ADAR gene variants in a Chinese pedigree affected with Dyschromatosis symmetrica hereditaria in conjunct with developmental delay].
| العنوان: | [Analysis of ADAR gene variants in a Chinese pedigree affected with Dyschromatosis symmetrica hereditaria in conjunct with developmental delay]. |
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| المؤلفون: | Zhang Y; Henan Provincial Key Laboratory for Pediatric Epilepsy and Immunomedicine, Henan Provincial Clinical Diagnosis and Treatment Center for Children's Neurological Diseases, Children's Hospital of the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. whlek6527@126.com., Chen Z, Wang J, Wei G, Niu J, Wang Y, Wang H |
| 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. 591-595. |
| نوع المنشور: | Journal Article; Case Reports; English Abstract |
| 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: | Adenosine Deaminase*/genetics , Developmental Disabilities*/genetics , Pedigree* , Pigmentation Disorders*/genetics , Pigmentation Disorders*/congenital , RNA-Binding Proteins*/genetics, Adult ; Child, Preschool ; Female ; Humans ; Male ; China ; East Asian People/genetics ; Exome Sequencing ; Mutation |
| مستخلص: | Objective: To explore the clinical characteristics and genetic etiology for a Chinese pedigree affected with Dyschromatosis symmetrica hereditaria (DSH) in conjunct with developmental delay. Methods: A child who had presented at the First Affiliated Hospital of Zhengzhou University on May 28 2021 for abnormal skin pigmentation of the extremities and growth retardation for over 2 years was selected as the study subject. Clinical data of the child and his pedigree (11 individuals from three generations) was collected. The child was subjected to whole exome sequencing, and candidate variant was verified by Sanger sequencing. Results: The child, a two-year-and-seven-month-old male, had hyper- and hypopigmentation on his hands, feet and face, in addition with delayed development. All members of his pedigree had typical presentation of DSH. A heterozygous c.2657G>A variant was found in exon 8 of the ADAR gene in the child, his mother, and elder sister. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was predicted as likely pathogenic (PM1+PM2_Supporting+PP1+PP3). Conclusion: The c.2657G>A variant of the ADAR gene probably underlay the DSH in this pedigree. |
| المشرفين على المادة: | EC 3.5.4.37 (ADAR protein, human) EC 3.5.4.4 (Adenosine Deaminase) 0 (RNA-Binding Proteins) |
| SCR Disease Name: | Dyschromatosis symmetrica hereditaria 1 |
| تواريخ الأحداث: | Date Created: 20240429 Date Completed: 20240429 Latest Revision: 20240430 |
| رمز التحديث: | 20240501 |
| DOI: | 10.3760/cma.j.cn511374-20230513-00281 |
| PMID: | 38684307 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1003-9406 |
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| DOI: | 10.3760/cma.j.cn511374-20230513-00281 |