[A case of primary microcephaly associated with compound heterozygous variants of WDR62 gene].

Q4 Medicine

中华医学遗传学杂志 Pub Date : 2025-02-10 DOI:10.3760/cma.j.cn511374-20211201-00951

Lihua Yu, Xingwang Wang, Ling Liu, Yukun Zeng, Yiming Qi, Yanlin Huang, Hongke Ding

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引用次数: 0

Abstract

Objective: To explore the genetic basis for a girl with primary microcephaly and growth retardation.

Methods: A girl who was admitted to Guangdong Maternal and Child Health Care Hospital in was selected as the study subject. Peripheral blood samples were collected from the child and her parents. Trio whole exome sequencing was carried out, and candidate variants were verified by Sanger sequencing and bioinformatic analysis. This study was approved by the Medical Ethnics Committee of Guangdong Maternal and Child Health Care Hospital (Ethics No. 202201278).

Results: DNA sequencing revealed that the child has harbored compound heterozygous variants of the WDR62 gene, including a frameshifting c.2963delC (p.Pro988Argfs*80) variant in exon 24 which was inherited from the unaffected father, and a nonsense c.3163G>T (p.Glu1055*) variant in exon 26, which was inherited from her unaffected mother. Both variants were predicted to affect the reading frame of the WDR62 gene.

Conclusion: Based on the clinical manifestations, results of genetic testing and pedigree analysis, the compound heterozygous variants were predicted to underlay the pathogenesis of microcephaly and growth retardation in this child. Above discovery has expanded the mutational spectrum for WDR62-associated Primary microcephaly type 2, and facilitated genetic counseling for the family.

查看原文本刊更多论文

【与WDR62基因复合杂合变异相关的原发性小头畸形1例】。

目的：探讨1例原发性小头畸形合并生长发育迟缓的遗传基础。方法：选取广东省妇幼保健院收治的1例女童作为研究对象。采集了患儿及其父母的外周血样本。进行三人全外显子组测序，候选变异通过Sanger测序和生物信息学分析进行验证。本研究经广东省妇幼保健院医学伦理委员会批准（伦理号：202201278）。结果：DNA测序显示，该儿童携带WDR62基因的复合杂合变异，包括遗传自未受影响父亲的第24外显子c.2963delC （p.Pro988Argfs*80）变异，以及遗传自未受影响母亲的第26外显子c.3163G>T （p.Glu1055*）无义变异。预计这两种变异都会影响WDR62基因的阅读框。结论：结合临床表现、基因检测和家系分析结果，预测复合杂合变异体可能是该患儿小头畸形和生长发育迟缓的发病机制。上述发现扩大了wdr62相关的2型原发性小头畸形的突变谱，并为该家庭的遗传咨询提供了便利。

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.