BioSample

Clinically affected;jaw cysts;overgrowth of upper and lower jaw;hypertelorism;round facial form with broad cheeks;slightly longer lower third of face;straight profile;long nasolabial angle;3 mm diastema between the maxillary central incisors;ectopic labial position on the left mandibular incisor;severe spacing in maxillary arch;broad;V-shped mandibular arch;numerous swellings on mandibular arch and severe angulation inclination and rotations over the mandibular incisors;posterior cross bites;severe rotations;and buckle inclination of mandibular teeth;multilocular cystic lesions due to the giant cell lesions in mandible and maxilla;donor subject is heterozygous for a G>C transversion at nucleotide 1519 (1519G>C) in exon 9 of the SH3BP2 gene;resulting in a missense mutation at codon 420 GLY420ARG (G420R) .