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

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Publication status:
Published

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Publisher copy:
10.1002/ajmg.a.35558

Authors


Pagnamenta, AT More by this author
Murray, JE More by this author
Sadighi Akha, E More by this author
Harrison, V More by this author
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Journal:
American journal of medical genetics. Part A
Volume:
158A
Issue:
10
Pages:
2577-2582
Publication date:
2012-10-05
DOI:
EISSN:
1552-4833
ISSN:
1552-4825
URN:
uuid:9aef1b6d-7b53-4a11-9b8f-3f0522644b4c
Source identifiers:
345617
Local pid:
pubs:345617

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