Article
A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.
European journal of human genetics : EJHG - 1 Mar 2009
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 excerpt
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...
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