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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.

journal_name

J Hum Genet

journal_title

Journal of human genetics

authors

Lin GT,Chang HW,Liu CS,Huang PJ,Wang HC,Cheng YM

doi

10.1007/s10038-006-0069-2

subject

Has Abstract

pub_date

2006-01-01 00:00:00

pages

1083-1086

issue

12

eissn

1434-5161

issn

1435-232X

pii

10.1007/s10038-006-0069-2

journal_volume

51

pub_type

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