{"title":"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","authors":"Naomi Laflamme, Valérie Triassi, Laurence Martineau, Dènahin Hinnoutondji Toffa, Laurent Létourneau‐Guillon, Annie Laplante, Patrick Cossette, Éric Samarut, Martine Tétreault, Dang Khoa Nguyen","doi":"10.1002/ajmg.a.63860","DOIUrl":null,"url":null,"abstract":"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 <jats:italic>KIF4A</jats:italic> gene on chromosome X. We discuss how this variant is possibly pathogenic and could explain the reported phenotype.","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":null,"pages":null},"PeriodicalIF":1.7000,"publicationDate":"2024-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"X‐Linked Bilateral Polymicrogyria With Epilepsy and Intellectual Disability Associated With a Novel KIF4A Variant\",\"authors\":\"Naomi Laflamme, Valérie Triassi, Laurence Martineau, Dènahin Hinnoutondji Toffa, Laurent Létourneau‐Guillon, Annie Laplante, Patrick Cossette, Éric Samarut, Martine Tétreault, Dang Khoa Nguyen\",\"doi\":\"10.1002/ajmg.a.63860\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"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 <jats:italic>KIF4A</jats:italic> gene on chromosome X. We discuss how this variant is possibly pathogenic and could explain the reported phenotype.\",\"PeriodicalId\":7507,\"journal\":{\"name\":\"American Journal of Medical Genetics Part A\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.7000,\"publicationDate\":\"2024-09-13\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"American Journal of Medical Genetics Part A\",\"FirstCategoryId\":\"99\",\"ListUrlMain\":\"https://doi.org/10.1002/ajmg.a.63860\",\"RegionNum\":4,\"RegionCategory\":\"生物学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"American Journal of Medical Genetics Part A","FirstCategoryId":"99","ListUrlMain":"https://doi.org/10.1002/ajmg.a.63860","RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
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)。
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.
期刊介绍:
The American Journal of Medical Genetics - Part A (AJMG) gives you continuous coverage of all biological and medical aspects of genetic disorders and birth defects, as well as in-depth documentation of phenotype analysis within the current context of genotype/phenotype correlations. In addition to Part A , AJMG also publishes two other parts:
Part B: Neuropsychiatric Genetics , covering experimental and clinical investigations of the genetic mechanisms underlying neurologic and psychiatric disorders.
Part C: Seminars in Medical Genetics , guest-edited collections of thematic reviews of topical interest to the readership of AJMG .