1. De novo 617G–A nucleotide mutation in the ACVR1 gene in a Taiwanese patient with fibrodysplasia ossificans progressiva
- Author
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Hsueh-Wei Chang, Yuh-Min Cheng, Peng-Ju Huang, Chih-Shan Liu, Gau-Tyan Lin, and Hsien-Chung Wang
- Subjects
medicine.medical_specialty ,Pediatrics ,Molecular Sequence Data ,Taiwan ,Biology ,Genetics ,medicine ,Humans ,Point Mutation ,Endochondral ossification ,Genetics (clinical) ,Base Sequence ,Point mutation ,Sequence Analysis, DNA ,medicine.disease ,Pedigree ,Myositis Ossificans ,Statistical genetics ,Dysplasia ,Child, Preschool ,Fibrodysplasia ossificans progressiva ,Mutation (genetic algorithm) ,Mutation testing ,Medical genetics ,Female ,Activin Receptors, Type I - 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.
- Published
- 2006