COL1A1 mutation in an Indian child with Caffey disease.
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.
Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Rae Bareilly Road, Lucknow 226014 Uttar Pradesh, India.
Prajnya
P
Ranganath
Christine M
CM
Laine
Divya
D
Gupta
Outi
O
Mäkitie
Shubha R
SR
Phadke
D024042:Collagen Type I / Q000235:genetics*; D000090602:Collagen Type I, alpha 1 Chain; D006579:Heterozygote; D006801:Humans; D006958:Hyperostosis, Cortical, Congenital / Q000175:diagnosis / Q000235:genetics*; D007223:Infant; D008297:Male; D020125:Mutation, Missense
D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain
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