Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism.
Cherubism (MIM 118400) is an autosomal dominant inherited syndrome characterized by excessive bone degradation of the upper and lower jaws followed by development of fibrous tissue masses, which causes a characteristic facial swelling. Here we describe seven mutations in the SH3-binding protein SH3BP2 (MIM 602104) on chromosome 4p16.3 that cause cherubism.
Ueki
Y
Y
Harvard-Forsyth Department of Oral Biology, Harvard School of Dental Medicine and The Forsyth Institute, Harvard Medical School, Boston, Massachusetts, USA.
Tiziani
V
V
Santanna
C
C
Fukai
N
N
Maulik
C
C
Garfinkle
J
J
Ninomiya
C
C
doAmaral
C
C
Peters
H
H
Habal
M
M
Rhee-Morris
L
L
Doss
J B
JB
Kreiborg
S
S
Olsen
B R
BR
Reichenberger
E
E
D048868:Adaptor Proteins, Signal Transducing; D002352:Carrier Proteins / Q000235:genetics* / Q000378:metabolism; D002636:Cherubism / Q000235:genetics* / Q000473:pathology; D008040:Genetic Linkage; D006239:Haplotypes / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D009154:Mutation; D010375:Pedigree; D016315:Proto-Oncogene Proteins c-abl / Q000378:metabolism; D017154:Stromal Cells / Q000378:metabolism / Q000473:pathology
D048868:Adaptor Proteins, Signal Transducing; D002352:Carrier Proteins; C109073:SH3BP2 protein, human; D016315:Proto-Oncogene Proteins c-abl