دورية أكاديمية
[Clinical characteristics and genetic analysis of 3 children with Mowat-Wilson syndrome].
| العنوان: | [Clinical characteristics and genetic analysis of 3 children with Mowat-Wilson syndrome]. |
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| المؤلفون: | Zhou T; Department of Traditional Chinese Medicine, Anhui Provincial Children's Hospital, Hefei, Anhui 230051, China. tong704@sina.com., Wang Y, Liang D, Chen L, Ye F, Cao H, Tong G |
| 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] 2022 Sep 10; Vol. 39 (9), pp. 944-948. |
| نوع المنشور: | 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: | Intellectual Disability*/genetics , Microcephaly*/genetics, Child ; DNA Copy Number Variations ; Facies ; Glycosyltransferases/genetics ; Hirschsprung Disease ; Humans |
| مستخلص: | Objective: To explore the genetic basis of three children with unexplained mental retardation/developmental delay. Methods: Peripheral venous blood samples were collected for routine G-banding karyotyping analysis and chromosomal microarray analysis (CMA). Whole exome sequencing (WES) was also carried out for patient 3. Results: The karyotypes of the 3 children were normal. The result of CMA analysis of patient 1 was arr[GRCh37]: 2q22/3(145 128 071-145 159 029)×1, with a 31 kb deletion, which was predicted to be a pathogenic copy number variation. The deletion has involved exons 8 to 10 of the ZEB2 gene. Patient 2 was arr[hg19]:2q22.3 (145 071 457-146 881 759)×1, with a 1.81 Mb deletion involving the ZEB2 and GTDC1 genes. Patient 3 was arr[GRCh37]: 9p23p23(11 698 261-12 106 261)×1, with a 408 kb deletion containing no disease-associated gene. WES has identified a c.2102C>A (p.Ser701*) variant in exon 8 of the ZEB2 gene, which was included in ClinVar database and rated as pathogenic, and verified by Sanger sequencing as a de novo variant. Conclusion: For the substantial clinical and genetic heterogeneity of Mowat-Wilson-syndrome, CMA and WES are helpful to identify the etiology of children with developmental delay/mental retardation of unknown causes, particularly those with peculiar facial features and multiple congenital malformations. |
| المشرفين على المادة: | EC 2.4.- (GTDC1 protein, human) EC 2.4.- (Glycosyltransferases) |
| SCR Disease Name: | Mowat-Wilson syndrome |
| تواريخ الأحداث: | Date Created: 20220909 Date Completed: 20220912 Latest Revision: 20220912 |
| رمز التحديث: | 20221213 |
| DOI: | 10.3760/cma.j.cn511374-20210829-00703 |
| PMID: | 36082562 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1003-9406 |
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| DOI: | 10.3760/cma.j.cn511374-20210829-00703 |