Caffey Disease: COL1A1 Recurrent Mutation
Infantile cortical hyperostosis
For details about specimen requirements, please refer to: Specimen Type & Requirements (PDF).
- Blood: 5-10 mL in EDTA, 0.5 mL in EDTA (neonate);
- DNA-minimum 10 ug in 100 uL low TE (pH8.0)
For details about specimen requirements, please refer to: Specimen Type and Requirements
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
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