title: Genetic abnormalities in fibrodysplasia ossificans progressiva.
abstract: Fibrodysplasia ossificans progressiva (FOP), characterized by congenital malformation of bones, is an autosomal dominant disorder. This is a rare genetic disorder and its worldwide prevalence is approximately 1/2,000,000. There is no ethnic, racial, gender, or geographic predilection to FOP. It is regarded as one of the intractable disorders, which is not only an extremely disabling disease but also a condition of considerably shortened lifespan. Although the genetic defects of FOP are not completely known, several clinical and animal model studies have implicated that mutations in bone morphogenetic proteins, their receptors, and activin receptor type IA (ACVR1) genes are associated with FOP primarily. The noggin (NOG) gene has also been reported in some studies. In most of the cases of FOP, the mutation was found as 'de novo' however there is paternal age effect on mutations. Unfortunately, at present there is no efficient treatment for FOP. The recent discoveries of genetic basis of FOP provide a clue to the underlying pathophysiology and potential therapy. This review article focuses on the genetic mutations in FOP, their usage as diagnostic markers, and possible target specific drug development to treat FOP patients.
authors.affiliation: Department of Orthopedics, The Third Xiangya Hospital of Central South University, China. mioajinglei@yahoo.com
authors.forename: Jinglei
authors.initials: J
authors.lastname: Miao
authors.forename: Chaoyue
authors.initials: C
authors.lastname: Zhang
authors.forename: Song
authors.initials: S
authors.lastname: Wu
authors.forename: Zhi
authors.initials: Z
authors.lastname: Peng
authors.forename: Mousumi
authors.initials: M
authors.lastname: Tania
mesh_terms: D030201:Activin Receptors, Type I / Q000235:genetics*; D019485:Bone Morphogenetic Proteins / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D006801:Humans; D009154:Mutation; D009221:Myositis Ossificans / Q000235:genetics*; D000099176:Noggin Protein
chemical_list: D030201:Activin Receptors, Type I; D019485:Bone Morphogenetic Proteins; D002352:Carrier Proteins; D000099176:Noggin Protein; C425423:ACVR1 protein, human