Literature DB >> 21249479

COL1A1 mutation in an Indian child with Caffey disease.

Prajnya Ranganath1, Christine M Laine, Divya Gupta, Outi Mäkitie, Shubha R Phadke.   

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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Year:  2011        PMID： 21249479     DOI： 10.1007/s12098-010-0339-z

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


  7 in total

1.  Infantile peri-osteitis.

Authors:  A Aroojis; H D'Souza; M G Yagnik
Journal:  Postgrad Med J       Date:  1998-05       Impact factor: 2.401

2.  Caffey disease: an unlikely collagenopathy.

Authors:  Francis H Glorieux
Journal:  J Clin Invest       Date:  2005-05       Impact factor: 14.808

3.  A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders.

Authors:  Robert C Gensure; Outi Mäkitie; Catherine Barclay; Catherine Chan; Steven R Depalma; Murat Bastepe; Hilal Abuzahra; Richard Couper; Stefan Mundlos; David Sillence; Leena Ala Kokko; Jonathan G Seidman; William G Cole; Harald Jüppner
Journal:  J Clin Invest       Date:  2005-05       Impact factor: 14.808

4.  Expanding the phenotypic spectrum of Caffey disease.

Authors:  K Suphapeetiporn; S Tongkobpetch; A Mahayosnond; V Shotelersuk
Journal:  Clin Genet       Date:  2007-03       Impact factor: 4.438

5.  Familial infantile cortical hyperostosis in a large Canadian family.

Authors:  A K Maclachlan; J W Gerrard; C S Houston; E J Ives
Journal:  Can Med Assoc J       Date:  1984-05-01       Impact factor: 8.262

6.  The c.3040C > T mutation in COL1A1 is recurrent in Korean patients with infantile cortical hyperostosis (Caffey disease).

Authors:  Tae-Joon Cho; Hyuk Ju Moon; Dae-Yeon Cho; Moon Seok Park; Dong Yeon Lee; Won Joon Yoo; Chin Youb Chung; In Ho Choi
Journal:  J Hum Genet       Date:  2008-08-13       Impact factor: 3.172

7.  Prenatal cortical hyperostosis with COL1A1 gene mutation.

Authors:  Agnès Kamoun-Goldrat; Jelena Martinovic; Julien Saada; Pascale Sonigo-Cohen; Ferechte Razavi; Arnold Munnich; Martine Le Merrer
Journal:  Am J Med Genet A       Date:  2008-07-15       Impact factor: 2.802
  7 in total
  4 in total

Review 1.  Caffey disease: new perspectives on old questions.

Authors:  Harikiran Nistala; Outi Mäkitie; Harald Jüppner
Journal:  Bone       Date:  2013-12-31       Impact factor: 4.398

Review 2.  Two Japanese familial cases of Caffey disease with and without the common COL1A1 mutation and normal bone density, and review of the literature.

Authors:  Taichi Kitaoka; Yoko Miyoshi; Noriyuki Namba; Kohji Miura; Takuo Kubota; Yasuhisa Ohata; Makoto Fujiwara; Masaki Takagi; Tomonobu Hasegawa; Harald Jüppner; Keiichi Ozono
Journal:  Eur J Pediatr       Date:  2014-01-04       Impact factor: 3.183

Review 3.  A review of skeletal dysplasia research in India.

Authors:  A Uttarilli; H Shah; A Shukla; K M Girisha
Journal:  J Postgrad Med       Date:  2018 Apr-Jun       Impact factor: 1.476

4.  Fetuin-A deficiency is associated with infantile cortical hyperostosis (Caffey disease).

Authors:  Rona Merdler-Rabinowicz; Anna Grinberg; Jeffrey M Jacobson; Ido Somekh; Christoph Klein; Atar Lev; Salama Ihsan; Adib Habib; Raz Somech; Amos J Simon
Journal:  Pediatr Res       Date:  2019-07-09       Impact factor: 3.756
  4 in total

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