Mutational screening of ACVR1 gene in Brazilian fibrodysplasia ossificans progressiva patients.
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.
Genetic Unit, Sarah Rehabilitation Hospital, Belo Horizonte-MG, São Luiz-MA, Brasilia-DF, Brazil. danielcarvalho@sarah.br
D R
DR
Carvalho
M M M
MM
Navarro
B J A F
BJ
Martins
K E F A
KE
Coelho
W D
WD
Mello
R I
RI
Takata
C E
CE
Speck-Martins
D030201:Activin Receptors, Type I / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D001938:Brazil; D002648:Child; D002675:Child, Preschool; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D009221:Myositis Ossificans / Q000235:genetics*
C425423:ACVR1 protein, human; D030201:Activin Receptors, Type I