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Article

CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome.

American journal of medical genetics. Part A - 1 Jan 2014

Pinson Lucile, Mannini Linda, Willems Marjolaine, Cucco Francesco, Sirvent Nicolas, Frebourg Thierry, Quarantotti Valentina, Collet Corinne, Schneider Anouck, Sarda Pierre, Geneviève David, Puechberty Jacques, Lefort Geneviève, Musio Antonio

Abstract excerpt

Mosaic variegated aneuploidy (MVA) is a rare autosomal recessive disorder characterized by constitutional aneuploidies. Mutations in BUB1B and CEP57 genes, which are involved in mitotic spindle and microtubule stabilization, respectively, are responsible for a subset of patients with MVA. To date, CEP57 mutations have been reported only in four probands. We report on a girl with this disorder due to...

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Identifiers

PMID: 24259107
DOI: 10.1002/ajmg.a.36166

Genes

CEP57

Variants

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Source receipt: pubmed, retrieved 6 Sept 2026.

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