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Caffey Disease: COL1A1 Recurrent Mutation

Alternate test name

Infantile cortical hyperostosis

Gene name / Alternate gene name
  • COL1A1
Collagen, type 1, alpha 1
Lab area
Genome Diagnostics - Molecular Genetics
Method and equipment
Targeted analysis of recurrent mutation in exon 41
Expected turn-around time
Pregnancy/STAT: 2-3 weeks Routine: 4-6 weeks
Specimen type

Blood; gDNA

For details about specimen requirements, please refer to: 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

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

Caffey Disease is an autosomal dominant disorder characterized by episodes of massive subperiosteal new bone formation, usually involving the diaphysies of long bones, mandible and clavicle. It typically presents before 5 months of age and clinical features resolve spontaneously around 2 years of age. A single pathogenic mutation, c.3040C>T (p.Arg1014Cys) has been found in the COL1A1 gene. Penetrance of the mutation is only ~80%, with an inflammatory event as the pro-posed mechanism to elicit clinical presentation.

See related information sheet: Caffey Disease

Disease condition

Caffey Disease

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