Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva.
Fibrodysplasia ossificans progressiva (FOP, MIM 135100) is a rare autosomal dominant disorder characterized by postnatal progressive heterotopic ossification of the connective tissue and congenital malformation of the big toes. Recently, FOP has been associated with a specific mutation of ACVR1, the gene coding for a bone morphogenetic protein type I receptor. We report the case of a Moroccan patient with FOP carrying a rarely occurring mutation of ACVR1 gene.
Ratbi
Ilham
I
Department of Medical Genetics, National Institute of Health, 27 Avenue Ibn Batouta, BP 769, 11400, Rabat, Morocco. ilhamratbi@yahoo.fr
Bocciardi
Renata
R
Regragui
Asmaa
A
Ravazzolo
Roberto
R
Sefiani
Abdelaziz
A
D030201:Activin Receptors, Type I / Q000235:genetics*; D017668:Age of Onset; D002648:Child; D004252:DNA Mutational Analysis; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D009154:Mutation; D009221:Myositis Ossificans / Q000235:genetics*; D009999:Ossification, Heterotopic / Q000235:genetics*
C425423:ACVR1 protein, human; D030201:Activin Receptors, Type I