title: Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism.
abstract: 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.
authors.affiliation: Harvard-Forsyth Department of Oral Biology, Harvard School of Dental Medicine and The Forsyth Institute, Harvard Medical School, Boston, Massachusetts, USA.
authors.forename: Y
authors.initials: Y
authors.lastname: Ueki
authors.forename: V
authors.initials: V
authors.lastname: Tiziani
authors.forename: C
authors.initials: C
authors.lastname: Santanna
authors.forename: N
authors.initials: N
authors.lastname: Fukai
authors.forename: C
authors.initials: C
authors.lastname: Maulik
authors.forename: J
authors.initials: J
authors.lastname: Garfinkle
authors.forename: C
authors.initials: C
authors.lastname: Ninomiya
authors.forename: C
authors.initials: C
authors.lastname: doAmaral
authors.forename: H
authors.initials: H
authors.lastname: Peters
authors.forename: M
authors.initials: M
authors.lastname: Habal
authors.forename: L
authors.initials: L
authors.lastname: Rhee-Morris
authors.forename: J B
authors.initials: JB
authors.lastname: Doss
authors.forename: S
authors.initials: S
authors.lastname: Kreiborg
authors.forename: B R
authors.initials: BR
authors.lastname: Olsen
authors.forename: E
authors.initials: E
authors.lastname: Reichenberger
mesh_terms: 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
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D002352:Carrier Proteins; C109073:SH3BP2 protein, human; D016315:Proto-Oncogene Proteins c-abl