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Article

A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss.

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

Pagnamenta Alistair T, Murray Jennie E, Yoon Grace, Sadighi Akha Elham, Harrison Victoria, Bicknell Louise S, Ajilogba Kaseem, Stewart Helen, Kini Usha, Taylor Jenny C, Keays David A, Jackson Andrew P, Knight Samantha J L

Abstract excerpt

Primary microcephaly is a genetically heterogeneous condition characterized by reduced head circumference (-3 SDS or more) and mild-to-moderate learning disability. Here, we describe clinical and molecular investigations of a microcephalic child with sensorineural hearing loss. Although consanguinity was unreported initially, detection of 13.7 Mb of copy neutral loss of heterozygosity (cnLOH) on chromosome 9...

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PMID: 22887808
DOI: 10.1002/ajmg.a.35558
PMCID: PMC3470702

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