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Article

A translocation breakpoint disrupts the ASPM gene in a patient with primary microcephaly.

European journal of human genetics : EJHG - 1 May 2004

Pichon Bruno, Vankerckhove Sophie, Bourrouillou Georges, Duprez Laurence, Abramowicz Marc J

Abstract excerpt

Primary microcephaly (microcephalia vera) is a developmental abnormality resulting in a small brain, with mental retardation. It is usually transmitted as an autosomal recessive trait, and six loci have been reported to date. We analyzed a translocation breakpoint previously reported in a patient with apparently sporadic primary microcephaly, at 1q31, where locus MCPH5 maps. The patient was lost to follow-up, and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 14997185
DOI: 10.1038/sj.ejhg.5201169

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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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A translocation breakpoint disrupts the ASPM gene in a patient with primary microcephaly.PMID 14997185Read ↗

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

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

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

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

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

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

ASPM mutations identified in patients with primary microcephaly and seizuresSemantic proximity Read ↗

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

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

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

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