De novo 617G-A nucleotide mutation in the ACVR1 gene in a Taiwanese patient with fibrodysplasia ossificans progressiva.
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.
Lin
Gau-Tyan
GT
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.
Chang
Hsueh-Wei
HW
Faculty of Biomedical Science and Environmental Biology, Kaohsiung Medical University, Kaohsiung, Taiwan, R.O.C.
Liu
Chih-Shan
CS
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.
Huang
Peng-Ju
PJ
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.
Wang
Hsien-Chung
HC
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.
Cheng
Yuh-Min
YM
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.
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
C425423:ACVR1 protein, human; D030201:Activin Receptors, Type I