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Article

Genetic analysis of primary microcephaly in Indian families: novel ASPM mutations.

Clinical genetics - 1 Oct 2004

Kumar A, Blanton S H, Babu M, Markandaya M, Girimaji S C

Abstract excerpt

Patients with primary microcephaly, an autosomal recessive trait, have mild to severe mental retardation without any other neurological deficits. It is a genetically heterogeneous disorder with six known loci: MCPH1 to MCPH6. Only the genes for MCPH1 and MCPH5 have been identified so far. We have...

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Source

Identifiers

PMID: 15355437
DOI: 10.1111/j.1399-0004.2004.00304.x

Genes

ASPM
MCPH1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15355437-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

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Genetic analysis of primary microcephaly in Indian families: novel ASPM mutations.PMID 15355437Read ↗

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

Two novel truncating variants of the ASPM gene identified in a nonconsanguineous Chinese family associated with primary microcephaly.Semantic proximity Read ↗

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

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

Evidence for a second gene for primary microcephaly at MCPH5 on chromosome 1.Semantic proximity Read ↗

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