دورية أكاديمية
[Clinical analysis of a child with cardio-facio-cutaneous syndrome due to a de novo variant of MAP2K1 gene].
| العنوان: | [Clinical analysis of a child with cardio-facio-cutaneous syndrome due to a de novo variant of MAP2K1 gene]. |
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| المؤلفون: | Cao H; Anhui Children's Hospital, Hefei, Anhui 230000, China. tong704@sina.com., Tong G, Huang R, Zhou T, Zhang W |
| 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 Oct 10; Vol. 39 (10), pp. 1129-1134. |
| نوع المنشور: | Case Reports; 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: | Ectodermal Dysplasia*/genetics, Facies ; Failure to Thrive/genetics ; Heart Defects, Congenital ; Humans ; MAP Kinase Kinase 1/genetics ; Mutation |
| مستخلص: | Objective: To explore the genotype-phenotype correlation of a patient with cardio-facio-cutaneous syndrome (CFCS) due to variant of the MAP2K1 gene. Methods: DNA was extracted from peripheral blood samples of the infant and his parents and subjected to whole exome sequencing. Candidate variant was verified by Sanger sequencing. Results: The patient had typical CFCS facies and developmental delay, and was found to harbor a de novo heterozygous c.389A>G (p.Tyr130Cys) missense variant in exon 3 of the MAP2K1 gene. Based on the American college of Medical Genetics and Genomics guidelines, this variant was classified as likely pathogenic. Conclusion: This patient has differed from previously reported cases by having no cardiac anomaly or seizures but typical facial features and skin abnormalities accompanied by growth retardation, intellectual impairment, and urinary malformation. It has therefore enriched the phenotypic spectrum of CFCS due to variants of the MAP2K1 gene. |
| المشرفين على المادة: | EC 2.7.12.2 (MAP Kinase Kinase 1) EC 2.7.12.2 (MAP2K1 protein, human) |
| SCR Disease Name: | Cardiofaciocutaneous syndrome |
| تواريخ الأحداث: | Date Created: 20221002 Date Completed: 20221004 Latest Revision: 20221011 |
| رمز التحديث: | 20240628 |
| DOI: | 10.3760/cma.j.cn511374-20211019-00827 |
| PMID: | 36184098 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1003-9406 |
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| DOI: | 10.3760/cma.j.cn511374-20211019-00827 |