دورية أكاديمية
[Genetic analysis of a Chinese pedigree affected with Cowden syndrome due to variant of PTEN gene].
| العنوان: | [Genetic analysis of a Chinese pedigree affected with Cowden syndrome due to variant of PTEN gene]. |
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| المؤلفون: | Peng Z; Department of Pulmonary and Critical Care Medicine, Ningde Municipal Hospital Affiliated to Ningde Normal University, Ningde, Fujian 352100, China. ndsyyzch01@163.com., Zhang C |
| 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 Jul 10; Vol. 41 (7), pp. 825-829. |
| 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: | Hamartoma Syndrome, Multiple*/genetics , Pedigree* , PTEN Phosphohydrolase*/genetics, Adult ; Child ; Female ; Humans ; Male ; Asian People/genetics ; China ; East Asian People ; Exome Sequencing ; Genetic Testing ; Mutation |
| مستخلص: | Objective: To explore the clinical features and genetic etiology of a Chinese pedigree affected with Cowden syndrome (CS). Methods: A CS pedigree diagnosed in November 2022 at the Ningde Municipal Hospital Affiliated to Ningde Normal University was selected as the study subject. Clinical data were collected, and genetic testing was carried out for available members. Pathogenicity analysis was carried out for the candidate variant. Results: The proband, a 7-year-old male, was found to have autism and intellectual disability. Whole exome sequencing revealed that he has harbored a c.462_463del (p.F154Lfs25) variant of the PTEN gene. The proband's 35-year-old mother, who was diagnosed with pulmonary hamartomas at our hospital, has manifested with lipomas, nodular goiter, and adenomas. Sanger sequencing confirmed that she was also heterozygous for the c.462_463del (p.F154Lfs25) variant of the PTEN gene. No other family members has carried the same variant. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as pathogenic (PVS1+PM2_Supporting+PM6). Conclusion: The newly discovered c.462_463del (p.F154Lfs*25) variant of the PTEN gene probably underlay the CS in this pedigree. CS patients have higher risk for developing malignant tumors. Clinicians should be aware of this condition and emphasize follow-up of the patients. |
| المشرفين على المادة: | EC 3.1.3.67 (PTEN Phosphohydrolase) EC 3.1.3.67 (PTEN protein, human) |
| تواريخ الأحداث: | Date Created: 20240701 Date Completed: 20240701 Latest Revision: 20240702 |
| رمز التحديث: | 20240703 |
| DOI: | 10.3760/cma.j.cn511374-20230516-00290 |
| PMID: | 38946366 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1003-9406 |
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| DOI: | 10.3760/cma.j.cn511374-20230516-00290 |