Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.

doi:10.1016/j.ajhg.2010.06.003

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Article

Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.

American journal of human genetics - 9 Jul 2010

Guernsey Duane L, Jiang Haiyan, Hussin Julie, Arnold Marc, Bouyakdan Khalil, Perry Scott, Babineau-Sturk Tina, Beis Jill, Dumas Nadine, Evans Susan C, Ferguson Meghan, Matsuoka Makoto, Macgillivray Christine, Nightingale Mathew, Patry Lysanne, Rideout Andrea L, Thomas Aidan, Orr Andrew, Hoffmann Ingrid, Michaud Jacques L, Awadalla Philip, Meek David C, Ludman Mark, Samuels Mark E

Abstract excerpt

Primary microcephaly is a rare condition in which brain size is substantially diminished without other syndromic abnormalities. Seven autosomal loci have been genetically mapped, and the underlying causal genes have been identified for MCPH1, MCPH3, MCPH5, MCPH6, and MCPH7 but not for MCPH2 or MCPH4. The known genes play roles in mitosis and cell division. We ascertained three families from an Eastern Canadian...

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Identifiers

PMID: 20598275
DOI: 10.1016/j.ajhg.2010.06.003
PMCID: PMC2896783

Genes

MCPH1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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