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

  • Eur J Hum Genet. 2009 Mar;17(3):395-400. doi: 10.1038/ejhg.2008.200.
Céline Huber  1 ,  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
Affiliations
  • 1. Université Paris Descartes, AP-HP, INSERM, Department of Genetics and INSERM U781, Hôpital Necker Enfants Malades, Paris, France.
PMID: 19225462 DOI: 10.1038/ejhg.2008.200
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.