A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.
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ABSTRACT:
SUBMITTER: Huber C
PROVIDER: S-EPMC2986175 | biostudies-literature | 2009 Mar
REPOSITORIES: biostudies-literature
Publications
A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.
Huber Céline C Delezoide Anee-Lise AL Guimiot Fabien F Baumann Clarisse C Malan Valérie V Le Merrer Martine M Da Silva Daniela Bezerra DB Bonneau Dominique D Chatelain Pierre P Chu Carol C Clark Robin R Cox Helen H Edery Patrick P Edouard Thomas T Fano Virginia V Gibson Kate K Gillessen-Kaesbach Gabriele G Giovannucci-Uzielli Maria-Luisa ML Graul-Neumann Luitgard Margarete LM van Hagen Johana-Maria JM van Hest Liselot L Horovitz Dafne D Melki Judith J Partsch Carl-Joachim CJ Plauchu Henry H Rajab Anna A Rossi Massimiliano M Sillence David D Steichen-Gersdorf Elisabeth E Stewart Helen H Unger Sheila S Zenker Martin M Munnich Arnold A Cormier-Daire Valérie V
European journal of human genetics : EJHG 20081029 3
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 fam ...[more]
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