A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.
Détails
ID Serval
serval:BIB_3FF87FCB8FF6
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.
Périodique
European Journal of Human Genetics : Ejhg
ISSN
1476-5438 (Electronic)
ISSN-L
1018-4813
Statut éditorial
Publié
Date de publication
2009
Peer-reviewed
Oui
Volume
17
Numéro
3
Pages
395-400
Langue
anglais
Notes
Publication types: Journal Article Publication Status: ppublish
Résumé
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.
Mots-clé
Abnormalities, Multiple/genetics, Child, Child, Preschool, Consanguinity, Cullin Proteins/genetics, Family, Fetal Growth Retardation/genetics, Fetus/pathology, Fetus/radiography, Genes, Recessive, Genetic Heterogeneity, Humans, Male, Mutation, Syndrome
Pubmed
Web of science
Open Access
Oui
Création de la notice
20/06/2015 13:07
Dernière modification de la notice
20/08/2019 14:37