Mutational screening of ACVR1 gene in Brazilian fibrodysplasia ossificans progressiva patients

被引:25
作者
Carvalho, D. R. [1 ]
Navarro, M. M. M. [1 ]
Martins, B. J. A. F. [1 ]
Coelho, K. E. F. A. [1 ]
Mello, W. D. [1 ]
Takata, R. I. [1 ]
Speck-Martins, C. E. [1 ]
机构
[1] Sarah Rehabil Hosp, Genet Unit, BR-70335901 Brasilia, DF, Brazil
关键词
activin A type I receptor gene (ACVR1); activin receptor-like kinase 2 (ALK2); fibrodysplasia ossificans progressiva; heterotopic ossification; mutation; phenotype variation; RECURRENT;
D O I
10.1111/j.1399-0004.2009.01256.x
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Fibrodysplasia ossificans progressiva (FOP) is a severe genetic disorder reported worldwide. A specific heterozygous mutation (c.617G > A; p.R206H) in the activin A type I receptor gene (ACVR1) is regarded as the genetic cause of FOP in all classically affected individuals worldwide. However, a few patients with FOP variants harbor distinct mutations in ACVR1. We screened a group of FOP Brazilian population for mutations in ACVR1. Of 16 patients with a classic FOP phenotype (10 males and 6 females, age range of 3-42 years), all had the classic mutation (p.R206H). One 21-year-old woman with a variant FOP phenotype had the previously reported c.983G > A mutation (p.G328E). Our study contributes to the understanding of the predominant FOP phenotype and genotype and suggests that variant FOP phenotypes are associated with specific mutations in ACVR1 gene.
引用
收藏
页码:171 / 176
页数:6
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