{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,26]],"date-time":"2026-04-26T08:07:30Z","timestamp":1777190850275,"version":"3.51.4"},"reference-count":18,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2012,8,10]],"date-time":"2012-08-10T00:00:00Z","timestamp":1344556800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2012,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Primary microcephaly is a genetically heterogeneous condition characterized by reduced head circumference (\u22123 SDS or more) and mild\u2010to\u2010moderate 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\u2009Mb of copy neutral loss of heterozygosity (cnLOH) on chromosome 9 implicated the <jats:italic>CDK5RAP2<\/jats:italic> gene. Targeted sequencing identified a homozygous E234X mutation, only the third mutation to be described in <jats:italic>CDK5RAP2<\/jats:italic>, the first in an individual of non\u2010Pakistani descent. Sensorineural hearing loss is not generally considered to be consistent with autosomal recessive microcephaly and therefore it seems likely that the deafness in this individual is caused by the co\u2010occurrence of a further gene mutation, independent of <jats:italic>CDK5RAP2<\/jats:italic>. Nevertheless, further detailed clinical descriptions of rare <jats:italic>CDK5RAP2<\/jats:italic> patients, including hearing assessments will be needed to resolve fully the phenotypic range associated with mutations in this gene. This study also highlights the utility of SNP\u2010array testing to guide disease gene identification where an autosomal recessive condition is plausible. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35558","type":"journal-article","created":{"date-parts":[[2012,8,10]],"date-time":"2012-08-10T18:49:10Z","timestamp":1344624550000},"page":"2577-2582","source":"Crossref","is-referenced-by-count":35,"title":["A novel nonsense <i>CDK5RAP2<\/i> mutation in a Somali child with primary microcephaly and sensorineural hearing loss"],"prefix":"10.1002","volume":"158A","author":[{"given":"Alistair T.","family":"Pagnamenta","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennie 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