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 language | English |
|---|---|
| Pages (from-to) | 459-463 |
| Number of pages | 5 |
| Journal | American Journal of Medical Genetics, Part A |
| Volume | 146 |
| Issue number | 4 |
| DOIs | |
| Publication status | Published - Feb 15 2008 |
Fingerprint
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 journal › Article
}
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 -