Description:
CHERUBISM
SH3 DOMAIN-BINDING PROTEIN 2; SH3BP2
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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Hispanic/Latino
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Relation to Proband
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proband
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Confirmation
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Molecular characterization after cell line submission to CCR
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| 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)]. |
| 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)]. |
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