WDR62 missense mutation in a consanguineous family with primary microcephaly

Carlos A. Bacino, Luis A. Arriola, Joanna Wiszniewska, Penelope E. Bonnen

Research output: Contribution to journalArticlepeer-review

12 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)622-625
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume158 A
Issue number3
StatePublished - Mar 2012
Externally publishedYes


  • Primary microcephaly
  • WDR62 mutations
  • WDR62 mutations and brain malformations
  • WDR62 mutations and microcephaly

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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