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Genetic studies of autosomal recessive primary microcephaly in 33 Pakistani families: Novel sequence variants in ASPM gene.

Neurogenetics - 1 May 2006

Gul Asma, Hassan Muhammad Jawad, Mahmood Saqib, Chen Wenje, Rahmani Safa, Naseer Muhammad Imran, Dellefave Lisa, Muhammad Noor, Rafiq Muhammad Arshad, Ansar Muhammad, Chishti Muhammad Salman, Ali Ghazanfar, Siddique Teepu, Ahmad Wasim

Abstract excerpt

Human autosomal recessive primary microcephaly (MCPH) is a rare genetic disorder in which affected individuals are born with reduced brain size. MCPH is genetically heterogeneous, with six loci and four genes reported to date. Mutations in the ASPM gene at the MCPH5 locus appear to be the most common cause of MCPH. For this study, 33 Pakistani families with primary microcephaly were enrolled. Genotyping using...

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Identifiers

PMID: 16673149
DOI: 10.1007/s10048-006-0042-4

Genes

ASPM

Variants

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Genetic studies of autosomal recessive primary microcephaly in 33 Pakistani families: Novel sequence variants in ASPM gene.PMID 16673149Read ↗

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Mutation screening of multiple Pakistani MCPH families revealed novel and recurrent protein-truncating mutations of ASPM.Semantic proximity Read ↗

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