title: Mutations of the noggin (NOG) and of the activin A type I receptor (ACVR1) genes in a series of twenty-seven French fibrodysplasia ossificans progressiva (FOP) patients.
abstract: Fibrodysplasia ossificans progressiva (FOP) is a rare but very severe disease, characterised by congenital malformations of the toes and by progressive heterotopic ossification of muscles and joints. Two genes, the noggin (NOG) gene and the activin A type I receptor (ACVRI) gene, are involved in FOP. In this study we have searched for the NOG and the 617G>A (ACVR1) mutations in a well characterized series of twenty-seven French FOP patients. Five NOG mutations (delta 42, 274G>C, 275G>A, 276G>A, and 283G>A) have been found in seven (26%) of our FOP patients. The 617G>A mutation in the ACVR1 gene is found in fourteen (52%) of the patients. With one exception (patient number 22), 617G>A and NOG mutations are mutually exclusive in patients. Mutations 274G>C, 283G>A and 617G>A segregate with the trait in five different FOP families, some members of them being partially affected by the disease.
authors.affiliation: Center of Molecular Neurogenetics, 75005 Paris, France. lucotte@hotmail.com
authors.forename: G
authors.initials: G
authors.lastname: Lucotte
authors.forename: A
authors.initials: A
authors.lastname: Houzet
authors.forename: C
authors.initials: C
authors.lastname: Hubans
authors.forename: J P
authors.initials: JP
authors.lastname: Lagarde
authors.forename: G
authors.initials: G
authors.lastname: Lenoir
mesh_terms: D030201:Activin Receptors, Type I / Q000235:genetics*; D000328:Adult; D017668:Age of Onset; D000368:Aged; D002352:Carrier Proteins / Q000235:genetics*; D005260:Female; D005602:France / Q000453:epidemiology; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009221:Myositis Ossificans / Q000453:epidemiology* / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D000099176:Noggin Protein
chemical_list: D030201:Activin Receptors, Type I; D002352:Carrier Proteins; D000099176:Noggin Protein; C425423:ACVR1 protein, human