A unique case of fihrodysplasia ossificans progressiva with an ACVR1 mutation, G356D, other than the common mutation (R206H)

Hirokazu Furuya, Koji Ikezoe, Lixiang Wang, Yasumasa Ohyagi, Kyoko Motomura, Naoki Fujii, Jun Ichi Kira, Yasuyuki Fukumaki

Research output: Contribution to journalArticle

59 Citations (Scopus)

Abstract

Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant congenital disease characterized by progressive heterotopic endochondral osteogenesis with great-toe malformations. A 617G > A (R206H) mutation of the activin A type 1 receptor gene (ACVR1) has been found in all previously reported patients with FOP. Thus, this is one of the most specific of all disease-associated mutations. We report here on a 62-year-old man with slowly progressive FOP and a novel mutation in ACVR1. He developed difficulty in moving his shoulder since age 10 years due to contraction of the shoulder joint. The symptoms progressed slowly, and he could not walk at age 36 years and was bedridden at 55 years. He also showed rigid spine, baldness, sensorineural hearing loss, and hypodactyly accompanied by abnormal ectopic ossification. Analysis of ACVR1 and its cDNA revealed that the patient is heterozygous for a mutation, 1067G > A (G356D). Typing of SNPs located in the ∼0.5-Mb region spanning ACVR1 and its neighbor genes suggested that 1067G > A is a de novo mutation. These results give a clue to better understanding of FOP as well as of the mild clinical symptoms in the patient.

Original languageEnglish
Pages (from-to)459-463
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume146
Issue number4
DOIs
Publication statusPublished - Feb 15 2008

Fingerprint

Myositis Ossificans
Mutation
Hallux
Heterotopic Ossification
Shoulder Joint
Sensorineural Hearing Loss
Alopecia
Osteogenesis
Genes
Single Nucleotide Polymorphism
Spine
Complementary DNA

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

A unique case of fihrodysplasia ossificans progressiva with an ACVR1 mutation, G356D, other than the common mutation (R206H). / Furuya, Hirokazu; Ikezoe, Koji; Wang, Lixiang; Ohyagi, Yasumasa; Motomura, Kyoko; Fujii, Naoki; Kira, Jun Ichi; Fukumaki, Yasuyuki.

In: American Journal of Medical Genetics, Part A, Vol. 146, No. 4, 15.02.2008, p. 459-463.

Research output: Contribution to journalArticle

Furuya, Hirokazu ; Ikezoe, Koji ; Wang, Lixiang ; Ohyagi, Yasumasa ; Motomura, Kyoko ; Fujii, Naoki ; Kira, Jun Ichi ; Fukumaki, Yasuyuki. / A unique case of fihrodysplasia ossificans progressiva with an ACVR1 mutation, G356D, other than the common mutation (R206H). In: American Journal of Medical Genetics, Part A. 2008 ; Vol. 146, No. 4. pp. 459-463.
@article{9eb15d327de9458d84c8d9e9c0a183c5,
title = "A unique case of fihrodysplasia ossificans progressiva with an ACVR1 mutation, G356D, other than the common mutation (R206H)",
abstract = "Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant congenital disease characterized by progressive heterotopic endochondral osteogenesis with great-toe malformations. A 617G > A (R206H) mutation of the activin A type 1 receptor gene (ACVR1) has been found in all previously reported patients with FOP. Thus, this is one of the most specific of all disease-associated mutations. We report here on a 62-year-old man with slowly progressive FOP and a novel mutation in ACVR1. He developed difficulty in moving his shoulder since age 10 years due to contraction of the shoulder joint. The symptoms progressed slowly, and he could not walk at age 36 years and was bedridden at 55 years. He also showed rigid spine, baldness, sensorineural hearing loss, and hypodactyly accompanied by abnormal ectopic ossification. Analysis of ACVR1 and its cDNA revealed that the patient is heterozygous for a mutation, 1067G > A (G356D). Typing of SNPs located in the ∼0.5-Mb region spanning ACVR1 and its neighbor genes suggested that 1067G > A is a de novo mutation. These results give a clue to better understanding of FOP as well as of the mild clinical symptoms in the patient.",
author = "Hirokazu Furuya and Koji Ikezoe and Lixiang Wang and Yasumasa Ohyagi and Kyoko Motomura and Naoki Fujii and Kira, {Jun Ichi} and Yasuyuki Fukumaki",
year = "2008",
month = "2",
day = "15",
doi = "10.1002/ajmg.a.32151",
language = "English",
volume = "146",
pages = "459--463",
journal = "American Journal of Medical Genetics, Part A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "4",

}

TY - JOUR

T1 - A unique case of fihrodysplasia ossificans progressiva with an ACVR1 mutation, G356D, other than the common mutation (R206H)

AU - Furuya, Hirokazu

AU - Ikezoe, Koji

AU - Wang, Lixiang

AU - Ohyagi, Yasumasa

AU - Motomura, Kyoko

AU - Fujii, Naoki

AU - Kira, Jun Ichi

AU - Fukumaki, Yasuyuki

PY - 2008/2/15

Y1 - 2008/2/15

N2 - Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant congenital disease characterized by progressive heterotopic endochondral osteogenesis with great-toe malformations. A 617G > A (R206H) mutation of the activin A type 1 receptor gene (ACVR1) has been found in all previously reported patients with FOP. Thus, this is one of the most specific of all disease-associated mutations. We report here on a 62-year-old man with slowly progressive FOP and a novel mutation in ACVR1. He developed difficulty in moving his shoulder since age 10 years due to contraction of the shoulder joint. The symptoms progressed slowly, and he could not walk at age 36 years and was bedridden at 55 years. He also showed rigid spine, baldness, sensorineural hearing loss, and hypodactyly accompanied by abnormal ectopic ossification. Analysis of ACVR1 and its cDNA revealed that the patient is heterozygous for a mutation, 1067G > A (G356D). Typing of SNPs located in the ∼0.5-Mb region spanning ACVR1 and its neighbor genes suggested that 1067G > A is a de novo mutation. These results give a clue to better understanding of FOP as well as of the mild clinical symptoms in the patient.

AB - Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant congenital disease characterized by progressive heterotopic endochondral osteogenesis with great-toe malformations. A 617G > A (R206H) mutation of the activin A type 1 receptor gene (ACVR1) has been found in all previously reported patients with FOP. Thus, this is one of the most specific of all disease-associated mutations. We report here on a 62-year-old man with slowly progressive FOP and a novel mutation in ACVR1. He developed difficulty in moving his shoulder since age 10 years due to contraction of the shoulder joint. The symptoms progressed slowly, and he could not walk at age 36 years and was bedridden at 55 years. He also showed rigid spine, baldness, sensorineural hearing loss, and hypodactyly accompanied by abnormal ectopic ossification. Analysis of ACVR1 and its cDNA revealed that the patient is heterozygous for a mutation, 1067G > A (G356D). Typing of SNPs located in the ∼0.5-Mb region spanning ACVR1 and its neighbor genes suggested that 1067G > A is a de novo mutation. These results give a clue to better understanding of FOP as well as of the mild clinical symptoms in the patient.

UR - http://www.scopus.com/inward/record.url?scp=38849093307&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=38849093307&partnerID=8YFLogxK

U2 - 10.1002/ajmg.a.32151

DO - 10.1002/ajmg.a.32151

M3 - Article

C2 - 18203193

AN - SCOPUS:38849093307

VL - 146

SP - 459

EP - 463

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

IS - 4

ER -