COL1A1 mutation in an Indian child with Caffey disease.

Abstract

Caffey disease or infantile cortical hyperostosis is a rare skeletal disorder with both sporadic and familial occurrence. The autosomal dominant familial form has been found to be a collagenopathy. The case being reported is a 7- month-old Indian boy with Caffey disease who was found to have the R1014C heterozygous mutation in the COL1A1 gene. This is the first mutation report of an Indian case with Caffey disease.

• Authors: Prajnya Ranganath, Christine M Laine, Divya Gupta, Outi Mäkitie, Shubha R Phadke
• Journal: Indian journal of pediatrics (Indian J Pediatr) Vol. 78 Issue 7 Pg. 877-9 (Jul 2011) ISSN: 0973-7693 [Electronic] India
• PMID: 21249479 (Publication Type: Case Reports, Journal Article)

Chemical References

• Collagen Type I
• Collagen Type I, alpha 1 Chain

Topics

• Collagen Type I (genetics)
• Collagen Type I, alpha 1 Chain
• Heterozygote
• Humans
• Hyperostosis, Cortical, Congenital (diagnosis, genetics)
• Infant
• Male
• Mutation, Missense