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Article

Mutation analysis of the ASPM gene in 18 Pakistani families with autosomal recessive primary microcephaly.

Journal of child neurology - 1 Jun 2010

Kousar Rizwana, Nawaz Hira, Khurshid Maryam, Ali Ghazanfer, Khan Saad Ullah, Mir Hina, Ayub Muhammad, Wali Abdul, Ali Nadir, Jelani Musharraf, Basit Sulman, Ahmad Wasim, Ansar Muhammad

Abstract excerpt

Autosomal recessive primary microcephaly (MCPH) is a rare neurological disorder, in which the patients exhibit reduced occipital frontal head circumference (>3 standard deviations) and mild-to-severe mental retardation. Autosomal recessive primary microcephaly is genetically heterogeneous and 7 loci have been reported to date. Mutations in ASPM (abnormal spindle-like, microcephaly associated) gene are the most...

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Source

Identifiers

PMID: 19808985
DOI: 10.1177/0883073809346850

Genes

ASPM

Variants

Provenance

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Related research

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Mutation analysis of the ASPM gene in 18 Pakistani families with autosomal recessive primary microcephaly.PMID 19808985Read ↗

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A Two-Base Pair Deletion in IQ Repeats in ASPM Underlies Microcephaly in a Pakistani Family.Semantic proximity Read ↗

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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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Novel Pathogenic Mutation Mapping of ASPM Gene in Consanguineous Pakistani Families with Primary Microcephaly.Semantic proximity Read ↗

A novel splice-site mutation in the ASPM gene underlies autosomal recessive primary microcephaly.Semantic proximity Read ↗

Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations.Semantic proximity Read ↗

Molecular genetic analysis of consanguineous families with primary microcephaly identified pathogenic variants in the ASPM gene.Semantic proximity Read ↗

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