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Article

The c.940G variant of the Microcephalin (MCPH1) gene is not associated with microcephaly or mental retardation.

American journal of medical genetics. Part A - 15 Feb 2009

Maghirang-Rodriguez Reycel, Archie John G, Schwartz Charles E, Collins Julianne S

Abstract excerpt

It was reported that positive selection has acted upon a gene involved in autosomal recessive primary microcephaly, Microcephalin (MCPH1/BRIT1), located at chromosome 8p23. We tested if the reported diagnostic single nucleotide polymorphism (SNP) (G37995C or c.940G > C) of a derived haplogroup of the MCPH1 gene had significantly different frequencies in mental retardation (MR) patients and in MR patients with...

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Identifiers

PMID: 19267414
DOI: 10.1002/ajmg.a.32721

Genes

MCPH1

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

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The c.940G variant of the Microcephalin (MCPH1) gene is not associated with microcephaly or mental retardation.PMID 19267414Read ↗

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SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly.Semantic proximity Read ↗

Comment on papers by Evans et al. and Mekel-Bobrov et al. on Evidence for Positive Selection of MCPH1 and ASPM.Semantic proximity Read ↗

A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31.Semantic proximity Read ↗

Primary microcephaly gene MCPH1 shows signatures of tumor suppressors and is regulated by miR-27a in oral squamous cell carcinoma.Semantic proximity Read ↗

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

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

Microcephalin, a gene regulating brain size, continues to evolve adaptively in humans.Semantic proximity Read ↗

Investigation of MCPH1 G37995C and ASPM A44871G polymorphisms and brain size in a healthy cohort.Semantic proximity Read ↗

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