WDR62 missense mutation in a consanguineous family with primary microcephaly.

TitleWDR62 missense mutation in a consanguineous family with primary microcephaly.
Publication TypeJournal Article
Year of Publication2012
AuthorsBacino, CA, Arriola, LA, Wiszniewska, J, Bonnen, PE
JournalAm J Med Genet A
Date Published2012 Mar
KeywordsCell Cycle Proteins, Consanguinity, Female, Homozygote, Humans, Infant, Male, Microcephaly, Mutation, Missense, Nerve Tissue Proteins, Pedigree, Polymorphism, Single Nucleotide

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.

Alternate JournalAm J Med Genet A
PubMed ID22308068
Grant ListU54 HG003273 / HG / NHGRI NIH HHS / United States

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