Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva

Ilham Ratbi; Renata Borcciadi; Asmaa Regragui; Roberto Ravazzolo; Abdelaziz Sefiani

doi:10.1007/s10067-009-1283-z

Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva

Ilham Ratbi, Renata Borcciadi, Asmaa Regragui, Roberto Ravazzolo, Abdelaziz Sefiani

Istituto "Giannina Gaslini"

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English
Pages (from-to)	119-121
Number of pages	3
Journal	Clinical Rheumatology
Volume	29
Issue number	1
DOIs	https://doi.org/10.1007/s10067-009-1283-z
Publication status	Published - Jan 2010

Keywords

ACVR1
Fibrodysplasia
Heterotopic ossification
Mutation

ASJC Scopus subject areas

Rheumatology

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10.1007/s10067-009-1283-z

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title = "Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva",

abstract = "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.",

keywords = "ACVR1, Fibrodysplasia, Heterotopic ossification, Mutation",

author = "Ilham Ratbi and Renata Borcciadi and Asmaa Regragui and Roberto Ravazzolo and Abdelaziz Sefiani",

year = "2010",

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doi = "10.1007/s10067-009-1283-z",

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AU - Ratbi, Ilham

AU - Borcciadi, Renata

AU - Regragui, Asmaa

AU - Ravazzolo, Roberto

AU - Sefiani, Abdelaziz

PY - 2010/1

Y1 - 2010/1

N2 - 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.

AB - 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.

KW - ACVR1

KW - Fibrodysplasia

KW - Heterotopic ossification

KW - Mutation

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JO - Clinical Rheumatology

JF - Clinical Rheumatology

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ER -

Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva

Abstract

Keywords

ASJC Scopus subject areas

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