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Article

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

Annals of Saudi medicine - 1 Jan 2000

Hashmi Jamil A, Al-Harbi Khalid M, Ramzan Khushnooda, Albalawi Alia M, Mehmood Amir, Samman Mohammed I, Basit Sulman

Abstract excerpt

BACKGROUND: Autosomal recessive primary microcephaly (MCPH) is a clinically and genetically heterogeneous disorder. Patients with MCPH exhibit reduced occipito-frontal head circumference and non-progressive intellectual disability. To date, 17 genes have been known as an underlying cause of MCPH in humans. ASPM (abnormal spindle-like, microcephaly associated) is the most commonly mutated MCPH gene. OBJECTIVE:...

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Source

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Identifiers

PMID: 27920410
DOI: 10.5144/0256-4947.2016.391
PMCID: PMC6074201

Genes

ASPM

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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A novel splice-site mutation in the ASPM gene underlies autosomal recessive primary microcephaly.PMID 27920410Read ↗

Whole Exome Sequencing Identifies Three Novel Mutations in the ASPM Gene From Saudi Families Leading to Primary MicrocephalySemantic proximity Read ↗

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The molecular landscape of ASPM mutations in primary microcephaly.Semantic proximity Read ↗

Analysis of ASPM in an ethnically diverse cohort of 400 patient samples: perspectives of the molecular diagnostic laboratory.Semantic proximity Read ↗

Whole exome sequencing identifies a novel homozygous frameshift mutation in the ASPM gene, which causes microcephaly 5, primary, autosomal recessiveSemantic proximity Read ↗

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

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

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Novel Pathogenic Mutation Mapping of ASPM Gene in Consanguineous Pakistani Families 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 ↗

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