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De novo 617G-A nucleotide mutation in the ACVR1 gene in a Taiwanese patient with fibrodysplasia ossificans progressiva.
J Hum Genet. 2006; 51(12):1083-1086.JH

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+Show Affiliations

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.Faculty of Biomedical Science and Environmental Biology, Kaohsiung Medical University, Kaohsiung, Taiwan, R.O.C.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 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.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.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.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

17077940

Citation

Lin, Gau-Tyan, et al. "De Novo 617G-A Nucleotide Mutation in the ACVR1 Gene in a Taiwanese Patient With Fibrodysplasia Ossificans Progressiva." Journal of Human Genetics, vol. 51, no. 12, 2006, pp. 1083-1086.
Lin GT, Chang HW, Liu CS, et al. De novo 617G-A nucleotide mutation in the ACVR1 gene in a Taiwanese patient with fibrodysplasia ossificans progressiva. J Hum Genet. 2006;51(12):1083-1086.
Lin, G. T., Chang, H. W., Liu, C. S., Huang, P. J., Wang, H. C., & Cheng, Y. M. (2006). De novo 617G-A nucleotide mutation in the ACVR1 gene in a Taiwanese patient with fibrodysplasia ossificans progressiva. Journal of Human Genetics, 51(12), 1083-1086. https://doi.org/10.1007/s10038-006-0069-2
Lin GT, et al. De Novo 617G-A Nucleotide Mutation in the ACVR1 Gene in a Taiwanese Patient With Fibrodysplasia Ossificans Progressiva. J Hum Genet. 2006;51(12):1083-1086. PubMed PMID: 17077940.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - De novo 617G-A nucleotide mutation in the ACVR1 gene in a Taiwanese patient with fibrodysplasia ossificans progressiva. AU - Lin,Gau-Tyan, AU - Chang,Hsueh-Wei, AU - Liu,Chih-Shan, AU - Huang,Peng-Ju, AU - Wang,Hsien-Chung, AU - Cheng,Yuh-Min, Y1 - 2006/11/01/ PY - 2006/07/26/received PY - 2006/08/30/accepted PY - 2006/11/2/pubmed PY - 2007/2/28/medline PY - 2006/11/2/entrez SP - 1083 EP - 1086 JF - Journal of human genetics JO - J Hum Genet VL - 51 IS - 12 N2 - 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. SN - 1434-5161 UR - https://www.unboundmedicine.com/medline/citation/17077940/De_novo_617G_A_nucleotide_mutation_in_the_ACVR1_gene_in_a_Taiwanese_patient_with_fibrodysplasia_ossificans_progressiva_ L2 - http://www.diseaseinfosearch.org/result/2849 DB - PRIME DP - Unbound Medicine ER -