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De novo 617G-A nucleotide mutation in the ACVR1 gene in a Taiwanese patient with fibrodysplasia ossificans progressiva.

Authors
  • Lin, Gau-Tyan1
  • Chang, Hsueh-Wei
  • Liu, Chih-Shan
  • Huang, Peng-Ju
  • Wang, Hsien-Chung
  • Cheng, Yuh-Min
  • 1 Faculty of Department of Orthopaedic Surgery, Chung-Ho Memorial Kaohsiung Medical University Hospital, Kaohsiung Medical University, No.100, Tzyou 1st road, Kaohsiung, 807, Taiwan, R.O.C. [email protected]
Type
Published Article
Journal
Journal of human genetics
Publication Date
2006
Volume
51
Issue
12
Pages
1083–1086
Identifiers
PMID: 17077940
Source
Medline
License
Unknown

Abstract

Fibrodysplasia ossificans progressiva (FOP) is a rare congenital disease with autosomal dominant transmission characterized by the presence of malformations of the big toes and of postnatal progressive heterotopic endochondral osteogenesis. We report the case of 3-year-old girl with dysplasia of the first metatarsal bones and progressive heterotopic ossificans of the right thigh due to previous diphtheria-tetanus-pertussis immunizations and several inappropriate surgical interventions. Direct sequence analysis identified a 617G-A nucleotide mutation in the patient but not in her parents or brother. Pedigree analysis suggests that a de novo mutation in the ACVR1 gene is responsible for the disease in this family. This is the first report of the results of a mutation analysis in a sporadic case of FOP in a Taiwanese patient.

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