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.
Carvalho
D R
DR
Genetic Unit, Sarah Rehabilitation Hospital, Belo Horizonte-MG, São Luiz-MA, Brasilia-DF, Brazil. danielcarvalho@sarah.br
Navarro
M M M
MM
Martins
B J A F
BJ
Coelho
K E F A
KE
Mello
W D
WD
Takata
R I
RI
Speck-Martins
C E
CE
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