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Cherubism: SH3BP2

Alternate test name

Familial fibrous dysplasia of the jaw

Gene name / Alternate gene name
  • SH3BP2
SH3 domain-binding protein 2
Lab area
Genome Diagnostics - Molecular Genetics
Method and equipment
Targeted analysis of recurrent mutations in exon 9; Sequencing of the coding and flanking regions of the entire SH3BP2 gene
Expected turn-around time
Prenatal samples: 2 weeks Pregnancy/STAT: 2-3 weeks Routine: 4-6 weeks
Specimen type

Blood; gDNA.

For details about specimen requirements, please refer to the pdf: Specimen Type & Requirements (PDF).

Specimen requirements
  • Blood: 5-10 mL in EDTA, 0.5 mL in EDTA (neonate); 
  • DNA-minimum 10 ug in 100 uL low TE (pH8.0)
Storage and transportation

Room Temperature

For details about specimen requirements, please refer to: Specimen Type and Requirements

Special requirements

Special Instructions for Genome Diagnostics Samples

If sample shipment >48 hours, ship on ice.

Shipping information
The Hospital for Sick Children
Division of Genome Diagnostics
555 University Avenue, Black Wing, Room 3416
Toronto, ON
M5G 1X8
Phone: 416-813-7200 ext. 2
Hours: Monday to Friday, 8 a.m. to 4:30 p.m.
Off hours: Please send to Rapid Response Laboratory, 555 University Avenue, Room 3642
Email Molecular Lab:
Email Cytogenetics:
Background and clinical significance

Cherubism is a rare autosomal dominant condition of the mandible and maxilla. It causes round cheeks and jaws with slight upward turning of the eyes giving a facial appearance reminiscent of the angelic cherubs. The basis for the fullness of cheeks and jaws is a non-neoplastic fibrous dysplasia within the maxilla and mandible. Both ends of the spectrum, mild clinically unrecognized cases, and severe cases with extensive bone loss are seen. In some severe cases, the marked deformation results in chewing, speech, and swallowing difficulties and in rare cases, severe orbital involvement leading to diplopia may occur. Patients with Cherubism may show variability in clinical features due to incomplete penetrance and variable expressivity. In males the penetrance is close to 100% but in females only 50-75%.

The gene for Cherubism is SH3BP2, which has been localized to chromosome 4p16.3. Eleven different missense mutations for Cherubism have been described so far, all of them have been found in exon 9 of the SH3BP2 gene.

Cherubism is present when an individual has one copy of the defective gene. Affected individuals have a 50% chance of transmitting the disorder to each child. There is a 50% chance that the affected individual’s offspring will not be affected with Cherubism.

See related information sheet: Cherubism

Disease condition


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