WDR62 missense mutation in a consanguineous family with primary microcephaly

被引：14

作者：

Bacino, Carlos A. ^{[1
,2
]}

Arriola, Luis A. ^{[2
,3
]}

Wiszniewska, Joanna ^{[2
]}

Bonnen, Penelope E. ^{[2
,3
]}

机构：

[1] Texas Childrens Hosp, Clin Care Ctr, Houston, TX 77030 USA

[2] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

[3] Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2012年 / 158A卷 / 03期

关键词：

primary microcephaly; WDR62; mutations; WDR62 mutations and brain malformations; WDR62 mutations and microcephaly; CENTROSOMAL PROTEIN; MAPS; LOCUS; ASPM;

D O I：

10.1002/ajmg.a.34417

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学];

摘要：

We report on a consanguineous couple with two affected sons who presented with primary microcephaly and moderate to severe intellectual disabilities. A SNP array uncovered two overlapping regions of copy-neutral absence of heterozygosity (AOH) in both sibs. This led to sequencing of WDR62, a gene that codes for a spindle pole protein recently identified as a cause of primary microcephaly. A homozygous missense mutation in WDR62, p.E400K, was found in both boys and segregated with the condition in this family. WDR62 is one of seven genes responsible for autosomal recessive primary microcephaly (MCPH), and appears to be one of the most frequently involved in MCPH following ASPM. Studies of ASPM and WDR62 should perhaps be pursued in all cases of primary microcephaly with or without gross brain malformations. (c) 2012 Wiley Periodicals, Inc.

引用

页码：622 / 625

页数：4

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