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

Abstract:

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 13.7Mb of copy neutral loss of heterozygosity (cnLOH) on chromosome 9 implicated the CDK5RAP2 gene. Targeted sequencing identified a homozygous E234X mutati...

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Publisher copy:
10.1002/ajmg.a.35558

Authors


Journal:
American Journal of Medical Genetics, Part A More from this journal
Volume:
158 A
Issue:
10
Pages:
2577-2582
Publication date:
2012-10-01
DOI:
EISSN:
1552-4833
ISSN:
1552-4825
Language:
English
Keywords:
Pubs id:
pubs:354663
UUID:
uuid:fb42d67e-eada-4519-a404-9612341ab4ed
Local pid:
pubs:354663
Source identifiers:
354663
Deposit date:
2013-11-16

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