GM18382

GM18382 LCL from B-Lymphocyte

Description:

CHERUBISM
SH3 DOMAIN-BINDING PROTEIN 2; SH3BP2

Affected:

Yes

Sex:

Male

Age:

12 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Class

Disorders of Connective Tissue, Muscle, and Bone

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

Hispanic/Latino

Relation to Proband

proband

Confirmation

Molecular characterization after cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

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)].

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis

Gene

SH3BP2

Chromosomal Location

4p16.3

Allelic Variant 1

602104.0006; CHERUBISM

Identified Mutation

GLY420ARG; In 5 individuals with cherubism (118400) from 2 generations of a family, Lo et al. [Am. J. Med. Genet. 121A: 37-40 (2003)] identified a G-to-A transition in exon 9 of the SH3BP2 gene, resulting in a gly420-to-arg (G420R) substitution. In this family, G420R was caused by the change of GGG (gly) to AGG (arg); a family in which G420R was caused by a change from GGG to CGG (arg) had previously been reported [Ueki et al. Nature Genet. 28: 125-126 (2001)]. The manifestations were on the whole milder than those of many published cases (see, e.g., Figure 1 in Ueki et al. [Nature Genet. 28: 125-126 (2001)].