title: De novo 617G-A nucleotide mutation in the ACVR1 gene in a Taiwanese patient with fibrodysplasia ossificans progressiva.
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.
authors.affiliation: 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.. k82267@kmhk.kmu.edu.tw.|Faculty of Graduate Institute of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan, R.O.C.. k82267@kmhk.kmu.edu.tw.|Faculty of Department of Orthopedics, Kaohsiung Municipal Hsiao-Kang Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan, R.O.C.. k82267@kmhk.kmu.edu.tw.
authors.forename: Gau-Tyan
authors.initials: GT
authors.lastname: Lin
authors.affiliation: Faculty of Biomedical Science and Environmental Biology, Kaohsiung Medical University, Kaohsiung, Taiwan, R.O.C.
authors.forename: Hsueh-Wei
authors.initials: HW
authors.lastname: Chang
authors.affiliation: 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.
authors.forename: Chih-Shan
authors.initials: CS
authors.lastname: Liu
authors.affiliation: 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.|Faculty of Department of Orthopedics, Kaohsiung Municipal Hsiao-Kang Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan, R.O.C.
authors.forename: Peng-Ju
authors.initials: PJ
authors.lastname: Huang
authors.affiliation: 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.|Faculty of Department of Orthopedics, Pingtung Christian Hospital, Pingtung, Taiwan, R.O.C.
authors.forename: Hsien-Chung
authors.initials: HC
authors.lastname: Wang
authors.affiliation: 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.. gtlin@kmu.edu.tw.|Faculty of Department of Orthopedics, Kaohsiung Municipal Hsiao-Kang Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan, R.O.C.. gtlin@kmu.edu.tw.
authors.forename: Yuh-Min
authors.initials: YM
authors.lastname: Cheng
mesh_terms: D030201:Activin Receptors, Type I / Q000235:genetics*; D001483:Base Sequence; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008969:Molecular Sequence Data; D009221:Myositis Ossificans / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D017354:Point Mutation; D017422:Sequence Analysis, DNA; D013624:Taiwan
chemical_list: C425423:ACVR1 protein, human; D030201:Activin Receptors, Type I