A novel c.1255G>T (p.D419Y) mutation in SH3BP2 gene causes cherubism in a Turkish family.
Cherubism (MIM no. 118400) is a rare autosomal dominant disorder characterized by bilateral multilocular lesions of the upper and lower jaws. The lesions usually manifest clinically during early childhood, progress until puberty, and regress in adulthood. SH3BP2 is the only gene currently known to be associated with cherubism. This study began with an 8-year-old boy who was referred owing to overgrowth of mandible. A panoramic radiograph revealed multilocular radiolucent lesions of the upper/lower jaws, suggestive of cherubism. Sequence analysis of SH3BP2 revealed a novel c.G1255T change in exon 9 of the gene where 80% of the disease-causing mutations were observed. We report here the clinical and molecular findings of a family with 3 affected members in two generations showing variable clinical expressivity with the regression of symptoms with advancing age and the lack of penetrance.
Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
Nuriye
N
Dinckan
Yeliz
Y
Guven
Hulya
H
Kayserili
Oya
O
Aktoren
Oya Zehra
OZ
Uyguner
D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D002636:Cherubism / Q000235:genetics*; D002648:Child; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D014421:Turkey
D048868:Adaptor Proteins, Signal Transducing; C109073:SH3BP2 protein, human