Intellectual disability and microcephaly associated with a novel CHAMP1 mutation

被引：3

作者：

Asakura, Yuta ^{[1
]}

Osaka, Hitoshi ^{[1
]}

Aoi, Hiromi ^{[2
]}

Mizuguchi, Takeshi ^{[2
]}

Matsumoto, Naomichi ^{[2
]}

Yamagata, Takanori ^{[1
]}

机构：

[1] Jichi Med Univ, Dept Pediat, Shimotsuke, Tochigi, Japan

[2] Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa, Japan

来源：

HUMAN GENOME VARIATION | 2021年 / 8卷 / 01期

基金：

日本学术振兴会;

关键词：

KIF5C;

D O I：

10.1038/s41439-021-00165-7

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Mutations in a number of genes related to chromosomal segregation reportedly cause developmental disorders, e.g., chromosome alignment-maintaining phosphoprotein 1 (CHAMP1). We report on an 8-year-old Japanese girl who presented with a developmental disorder and microcephaly and carries a novel nonsense mutation in CHAMP1. Therefore, CHAMP1 mutation should be considered as a differential diagnosis of global developmental delay and microcephaly.

引用

页数：3

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