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

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

European journal of human genetics : EJHG (2009-02-20)

Céline Huber, Anee-Lise Delezoide, Fabien Guimiot, Clarisse Baumann, Valérie Malan, Martine Le Merrer, Daniela Bezerra Da Silva, Dominique Bonneau, Pierre Chatelain, Carol Chu, Robin Clark, Helen Cox, Patrick Edery, Thomas Edouard, Virginia Fano, Kate Gibson, Gabriele Gillessen-Kaesbach, Maria-Luisa Giovannucci-Uzielli, Luitgard Margarete Graul-Neumann, Johana-Maria van Hagen, Liselot van Hest, Dafne Horovitz, Judith Melki, Carl-Joachim Partsch, Henry Plauchu, Anna Rajab, Massimiliano Rossi, David Sillence, Elisabeth Steichen-Gersdorf, Helen Stewart, Sheila Unger, Martin Zenker, Arnold Munnich, Valérie Cormier-Daire

PMID19225462

ABSTRAKT

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.