A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.
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.
Huber
Céline
C
Université Paris Descartes, AP-HP, INSERM, Department of Genetics and INSERM U781, Hôpital Necker Enfants Malades, Paris, France.
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
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
C506299:CUL7 protein, human; D044842:Cullin Proteins