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Eur J Hum Genet. 2009 Mar;17(3):395-400. doi: 10.1038/ejhg.2008.200. Epub 2008 Oct 29.

A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.

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  • 1Université Paris Descartes, AP-HP, INSERM, Department of Genetics and INSERM U781, Hôpital Necker Enfants Malades, Paris, France.

Abstract

The 3M syndrome is a rare autosomal recessive disorder recently ascribed to mutations in the CUL7 gene and characterized by severe pre- and postnatal growth retardation. Studying a series of 33 novel cases of 3M syndrome, we have identified deleterious CUL7 mutations in 23/33 patients, including 19 novel mutations and one paternal isodisomy of chromosome 6 encompassing a CUL7 mutation. Lack of mutations in 10/33 cases and exclusion of the CUL7 locus on chromosome 6p21.1 in six consanguineous families strongly support the genetic heterogeneity of the 3M syndrome.

PMID:
19225462
[PubMed - indexed for MEDLINE]
PMCID:
PMC2986175
Free PMC Article

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