[Genetic analysis of a patient with Weiss-Kruszka syndrome due to variant of ZNF462 gene].

Q4 Medicine

中华医学遗传学杂志 Pub Date : 2025-05-10 DOI:10.3760/cma.j.cn511374-20241231-00697

Xinli Zhang, Xueping Shen, Lihong Fan, Jinghui Zhang

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引用次数: 0

Abstract

Objective: To explore the clinical characteristics and genetic etiology of a patient with Weiss-Kruszka syndrome (WSKA).

Methods: A male patient presented with primary infertility for 1 year post-marriage, intellectual disability, and blepharoptosis at Huzhou Maternity and Child Health Care Hospital from October to December 2024 was selected as the study subject. Peripheral blood samples were collected from the patient and his family members. Following extraction of genomic DNA, whole-exome sequencing (WES) was carried out. Candidate variant was verified by Sanger sequencing and bioinformatic analysis. This study was approved by the Ethics Committee of the Hospital (Ethics No. 2023-R-010).

Results: The patient, a 29-year-old male, had exhibited short stature, trigonocephaly, bilateral blepharoptosis, arched eyebrows, brachydactyly, redundant skin folds, webbed neck, hypertrichosis, mild intellectual disability, and speech impairment. WES revealed that he has harbored a de novo heterozygous frameshifting variant of the ZNF462 gene, namely c.945_946del (p.T316Rfs*42). Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as pathogenic (PM2_Supporting+PVS1+PM6_Supporting).

Conclusion: The ZNF462 c.945_946del variant probably underlay the WSKA in this patient. Above finding has enriched the mutational spectrum of the ZNF462 gene.

查看原文本刊更多论文

[1例因ZNF462基因变异引起的Weiss-Kruszka综合征的遗传分析]。

目的：探讨1例Weiss-Kruszka综合征（WSKA）的临床特点及遗传病因。方法：选取湖州市妇幼保健院于2024年10月至12月收治的1例婚后1年原发性不孕、智力障碍、上睑下垂的男性患者作为研究对象。采集患者及其家属外周血样本。提取基因组DNA后进行全外显子组测序（WES）。候选变异通过Sanger测序和生物信息学分析进行验证。本研究经医院伦理委员会批准（伦理号2023-R-010）。结果：患者男性29岁，表现为身材矮小、三头畸形、双侧上睑下垂、弓形眉、短指、皮肤褶皱过多、颈部蹼状、多毛、轻度智力残疾和语言障碍。WES发现他携带了ZNF462基因的一个全新杂合移框变体，即c.945_946del （p.T316Rfs*42）。根据美国医学遗传学与基因组学学会（ACMG）的指南，将该变异分类为致病性（pm2_support +PVS1+ pm6_support）。结论：ZNF462 c.945_946del变异可能是该患者WSKA的基础。以上发现丰富了ZNF462基因的突变谱。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

中华医学遗传学杂志 Medicine-Medicine (all)

CiteScore

0.50

自引率

0.00%

发文量

9521

期刊介绍： Chinese Journal of Medical Genetics is a medical journal, founded in 1984, under the supervision of the China Association for Science and Technology, sponsored by the Chinese Medical Association (hosted by Sichuan University), and is now a monthly magazine, which attaches importance to academic orientation, adheres to the scientific, scholarly, advanced, and innovative, and has a certain degree of influence in the industry. Chinese Journal of Medical Genetics is a journal of Peking University, and is now included in Peking University Journal (Chinese Journal of Humanities and Social Sciences), CSCD Source Journals of Chinese Science Citation Database (with extended version), Statistical Source Journals (China Science and Technology Dissertation Outstanding Journals), Zhi.com (in Chinese), Wipu (in Chinese), Wanfang (in Chinese), CA Chemical Abstracts (U.S.), JST (Japan Science and Technology Science and Technology), and JST (Japan Science and Technology Science and Technology Research Center). ), JST (Japan Science and Technology Agency), Pж (AJ) Abstracts Journal (Russia), Copernicus Index (Poland), Cambridge Scientific Abstracts, Abstracts and Citation Database, Abstracts Magazine, Medical Abstracts, and so on.