Caffey Disease: COL1A1 Recurrent Mutation

Alternate test name

Infantile cortical hyperostosis

Gene name / Alternate gene name

COL1A1

Protein

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

Special requirements

Special Instructions for Genome Diagnostics Samples

Shipping information

The Hospital for Sick Children

Division of Genome Diagnostics

555 University Avenue, Black Wing, Room 3416

Toronto, ON

Canada

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: molecular.lab@sickkids.ca

Email Cytogenetics: cytogenetics.requests@sickkids.ca

Requisition

Caffey Disease: COL1A1 Recurrent Mutation - requisition

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