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Article

The first missense alteration in the MCPH1 gene causes autosomal recessive microcephaly with an extremely mild cellular and clinical phenotype.

Human mutation - 1 Nov 2005

Trimborn Marc, Richter Reyk, Sternberg Nadine, Gavvovidis Ioannis, Schindler Detlev, Jackson Andrew P, Prott Eva-Christina, Sperling Karl, Gillessen-Kaesbach Gabriele, Neitzel Heidemarie

Abstract excerpt

Autosomal recessive primary microcephaly (MCPH) is a rare neurodevelopmental disorder characterized by mental retardation and congenital microcephaly with a head circumference at least 4 SD below age and sex means, in the absence of other significant malformations or neurological deficits. Truncating alterations in the MCPH1 gene have previously been shown to exhibit a distinct cellular phenotype, with a high...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16211557
DOI: 10.1002/humu.9382

Genes

MCPH1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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The first missense alteration in the MCPH1 gene causes autosomal recessive microcephaly with an extremely mild cellular and clinical phenotype.PMID 16211557Read ↗

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Comprehensive review on the molecular genetics of autosomal recessive primary microcephaly (MCPH)Semantic proximity Read ↗

Craniosynostosis-microcephaly with chromosomal breakage and other abnormalities is caused by a truncating MCPH1 mutation and is allelic to premature chromosomal condensation syndrome and primary autosomal recessive microcephaly type 1.Semantic proximity Read ↗

Clinical and cellular features in patients with primary autosomal recessive microcephaly and a novel CDK5RAP2 mutation.Semantic proximity Read ↗

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A novel MCPH1 isoform complements the defective chromosome condensation of human MCPH1-deficient cells.Semantic proximity Read ↗

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