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COL1A1 Mutation in an Indian Child with Caffey Disease

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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.

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References

  1. Gensure RC, Makitie O, Barclay C, et al. A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen—related disorders. J Clin Invest. 2005;115:1250–7.

    PubMed  CAS  Google Scholar 

  2. Suphapeetiporn K, Tongkobpetch S, Mahayosnond A, Shotelersuk V. Expanding the phenotypic spectrum of Caffey disease. Clin Genet. 2007;71:280–4.

    Article  PubMed  CAS  Google Scholar 

  3. Cho TJ, Moon HJ, Cho DY, et al. The c.3040C > T mutation in COL1A1 is recurrent in Korean patients with infantile cortical hyperostosis (Caffey disease). J Hum Genet. 2008;53:947–9.

    Article  PubMed  CAS  Google Scholar 

  4. Kamoun-Goldrat A, Martinovic J, Saada J, et al. Prenatal cortical hyperostosis with COL1A1 gene mutation. Am J Med Genet A. 2008;146A:1820–4.

    Article  PubMed  CAS  Google Scholar 

  5. Maclachlan AK, Gerrard JW, Houston CS, Ives EJ. Familial infantile cortical hyperostosis in a large Canadian family. Can Med Assoc J. 1984;130:1172–4.

    PubMed  CAS  Google Scholar 

  6. Aroojis A, D’Souza H, Yagnik MG. Infantile peri-osteitis. Postgrad Med J. 1998;74:307–9.

    Article  PubMed  CAS  Google Scholar 

  7. Glorieux FH. Caffey disease: an unlikely collagenopathy. J Clin Invest. 2005;115:1142–4.

    Article  PubMed  CAS  Google Scholar 

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Correspondence to Shubha R. Phadke.

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Ranganath, P., Laine, C.M., Gupta, D. et al. COL1A1 Mutation in an Indian Child with Caffey Disease. Indian J Pediatr 78, 877–879 (2011). https://doi.org/10.1007/s12098-010-0339-z

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  • DOI: https://doi.org/10.1007/s12098-010-0339-z

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