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- Title
A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.
- Authors
Huber, Céline; Delezoide, Anee-Lise; Guimiot, Fabien; Baumann, Clarisse; Malan, Valérie; Le Merrer, Martine; Da Silva, Daniela Bezerra; Bonneau, Dominique; Chatelain, Pierre; Chu, Carol; Clark, Robin; Cox, Helen; Edery, Patrick; Edouard, Thomas; Fano, Virginia; Gibson, Kate; Gillessen-Kaesbach, Gabriele; Giovannucci-Uzielli, Maria-Luisa; Graul-Neumann, Luitgard Margarete; van Hagen, Johana-Maria; van Hest, Liselot; Horovitz, Dafne; Melki, Judith; Partsch, Carl-Joachim; Plauchu, Henry; Rajab, Anna; Rossi, Massimiliano; Sillence, David; Steichen-Gersdorf, Elisabeth; Stewart, Helen; Unger, Sheila; Zenker, Martin; Munnich, Arnold; Cormier-Daire, Valérie
- 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.
- Publication
European journal of human genetics : EJHG, 2009, Vol 17, Issue 3, p395
- ISSN
1476-5438
- Publication type
Journal Article
- DOI
10.1038/ejhg.2008.200