title: A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.
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.
authors.affiliation: Université Paris Descartes, AP-HP, INSERM, Department of Genetics and INSERM U781, Hôpital Necker Enfants Malades, Paris, France.
authors.forename: Céline
authors.initials: C
authors.lastname: Huber
authors.forename: Anee-Lise
authors.initials: AL
authors.lastname: Delezoide
authors.forename: Fabien
authors.initials: F
authors.lastname: Guimiot
authors.forename: Clarisse
authors.initials: C
authors.lastname: Baumann
authors.forename: Valérie
authors.initials: V
authors.lastname: Malan
authors.forename: Martine
authors.initials: M
authors.lastname: Le Merrer
authors.forename: Daniela Bezerra
authors.initials: DB
authors.lastname: Da Silva
authors.forename: Dominique
authors.initials: D
authors.lastname: Bonneau
authors.forename: Pierre
authors.initials: P
authors.lastname: Chatelain
authors.forename: Carol
authors.initials: C
authors.lastname: Chu
authors.forename: Robin
authors.initials: R
authors.lastname: Clark
authors.forename: Helen
authors.initials: H
authors.lastname: Cox
authors.forename: Patrick
authors.initials: P
authors.lastname: Edery
authors.forename: Thomas
authors.initials: T
authors.lastname: Edouard
authors.forename: Virginia
authors.initials: V
authors.lastname: Fano
authors.forename: Kate
authors.initials: K
authors.lastname: Gibson
authors.forename: Gabriele
authors.initials: G
authors.lastname: Gillessen-Kaesbach
authors.forename: Maria-Luisa
authors.initials: ML
authors.lastname: Giovannucci-Uzielli
authors.forename: Luitgard Margarete
authors.initials: LM
authors.lastname: Graul-Neumann
authors.forename: Johana-Maria
authors.initials: JM
authors.lastname: van Hagen
authors.forename: Liselot
authors.initials: L
authors.lastname: van Hest
authors.forename: Dafne
authors.initials: D
authors.lastname: Horovitz
authors.forename: Judith
authors.initials: J
authors.lastname: Melki
authors.forename: Carl-Joachim
authors.initials: CJ
authors.lastname: Partsch
authors.forename: Henry
authors.initials: H
authors.lastname: Plauchu
authors.forename: Anna
authors.initials: A
authors.lastname: Rajab
authors.forename: Massimiliano
authors.initials: M
authors.lastname: Rossi
authors.forename: David
authors.initials: D
authors.lastname: Sillence
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Steichen-Gersdorf
authors.forename: Helen
authors.initials: H
authors.lastname: Stewart
authors.forename: Sheila
authors.initials: S
authors.lastname: Unger
authors.forename: Martin
authors.initials: M
authors.lastname: Zenker
authors.forename: Arnold
authors.initials: A
authors.lastname: Munnich
authors.forename: Valérie
authors.initials: V
authors.lastname: Cormier-Daire
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D044842:Cullin Proteins / Q000235:genetics*; D005190:Family; D005317:Fetal Growth Retardation / Q000235:genetics; D005333:Fetus / Q000000981:diagnostic imaging / Q000473:pathology; D005808:Genes, Recessive; D018740:Genetic Heterogeneity; D006801:Humans; D008297:Male; D009154:Mutation; D011859:Radiography; D013577:Syndrome
chemical_list: C506299:CUL7 protein, human; D044842:Cullin Proteins