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Article

WDR62 missense mutation in a consanguineous family with primary microcephaly.

American journal of medical genetics. Part A - 1 Mar 2012

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

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22308068
DOI: 10.1002/ajmg.a.34417

Genes

ASPM

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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