与一种新型 KIF4A 变异有关的 X-连锁双侧多毛症伴癫痫和智力障碍

IF 16.4 1区化学 Q1 CHEMISTRY, MULTIDISCIPLINARY

Accounts of Chemical Research Pub Date : 2024-09-13 DOI:10.1002/ajmg.a.63860

Naomi Laflamme, Valérie Triassi, Laurence Martineau, Dènahin Hinnoutondji Toffa, Laurent Létourneau‐Guillon, Annie Laplante, Patrick Cossette, Éric Samarut, Martine Tétreault, Dang Khoa Nguyen

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引用次数: 0

摘要

我们研究了三兄弟和一个同母异父的兄弟，他们都患有全面发育迟缓、轻度至中度智力障碍、癫痫、小头畸形和斜视。他们都患有双侧胼胝体周围和岛周多小脑畸形，其中一些人还患有海马（旋转不良和发育不良）、小脑（异位和不对称发育不良）、胼胝体发育不良和脑干不对称发育不良等畸形。外显子组测序显示，所有四名患者的 X 染色体上的 KIF4A 基因都有一个新型变体（c.1597C>T:p.Leu533Phe）。

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X‐Linked Bilateral Polymicrogyria With Epilepsy and Intellectual Disability Associated With a Novel KIF4A Variant

We studied three brothers and a maternal half‐brother featuring global developmental delay, mild to moderate intellectual disability, epilepsy, microcephaly, and strabismus. All had bilateral perisylvian and perirolandic polymicrogyria, while some also had malformations of the hippocampus (malrotation and dysplasia), cerebellum (heterotopias and asymmetric aplasia), corpus callosum dysgenesis, and brainstem asymmetric dysplasia. Exome sequencing showed that all four patients had a novel variant (c.1597C>T:p.Leu533Phe) on the KIF4A gene on chromosome X. We discuss how this variant is possibly pathogenic and could explain the reported phenotype.

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来源期刊

Accounts of Chemical Research 化学-化学综合

CiteScore

31.40

自引率

1.10%

发文量

312

审稿时长

2 months

期刊介绍： Accounts of Chemical Research presents short, concise and critical articles offering easy-to-read overviews of basic research and applications in all areas of chemistry and biochemistry. These short reviews focus on research from the author’s own laboratory and are designed to teach the reader about a research project. In addition, Accounts of Chemical Research publishes commentaries that give an informed opinion on a current research problem. Special Issues online are devoted to a single topic of unusual activity and significance. Accounts of Chemical Research replaces the traditional article abstract with an article "Conspectus." These entries synopsize the research affording the reader a closer look at the content and significance of an article. Through this provision of a more detailed description of the article contents, the Conspectus enhances the article's discoverability by search engines and the exposure for the research.