Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism

Authors
Ueki, Y Tiziani, V Santanna, C Fukai, N Maulik, C Garfinkle, J Ninomiya, C doAmaral, C Peters, H Habal, M Rhee-Morris, L Doss, JB Kreiberg, S Olsen, BR Reichenberger, E
Citation
Y. Ueki et al., Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism, NAT GENET, 28(2), 2001, pp. 125-126
Citations number
8
Categorie Soggetti
Molecular Biology & Genetics
Journal title
NATURE GENETICS
ISSN journal
10614036 → ACNP
Volume
28
Issue
2
Year of publication
2001
Pages
125 - 126
Database
ISI
SICI code
1061-4036(200106)28:2<125:MITGEC>2.0.ZU;2-X
Abstract
Cherubism (MIM 118400) is an autosomal dominant inherited syndrome characte rized by excessive bone degradation of the upper and lower jaws(1) followed by development of fibrous tissue masses, which causes a characteristic fac ial swelling. Here we describe seven mutations in the SH3-binding protein S H3BP2 (MIM 602104) on chromosome 4p16.3 that cause cherubism.