title: Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome.
abstract: Proximal symphalangism is an autosomal-dominant disorder with ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness. These symptoms are shared by another disorder of joint morphogenesis, multiple synostoses syndrome. Recently, it was reported that both disorders were caused by heterozygous mutations of the human noggin gene (NOG). To date, seven mutations of NOG have been identified from unrelated families affected with joint morphogenesis. To characterize the molecular lesions of proximal symphalangism, we performed analyses of NOG in three Japanese individuals with proximal symphalangism. We found three novel mutations: g.551G>A (C184Y) in a sporadic case of symphalangism, g.386T>A (L129X) in a familial case of symphalangism, and a g.58delC (frameshift) in a family with multiple synostosis syndrome. Characteristic genotype-phenotype correlations have not been recognized from the mutations in the NOG gene.
authors.affiliation: Department of Pediatrics, Akita University School of Medicine, Akita, Japan. tomy@med.akita-u.ac.jp
authors.forename: T
authors.initials: T
authors.lastname: Takahashi
authors.forename: I
authors.initials: I
authors.lastname: Takahashi
authors.forename: M
authors.initials: M
authors.lastname: Komatsu
authors.forename: Y
authors.initials: Y
authors.lastname: Sawaishi
authors.forename: K
authors.initials: K
authors.lastname: Higashi
authors.forename: G
authors.initials: G
authors.lastname: Nishimura
authors.forename: H
authors.initials: H
authors.lastname: Saito
authors.forename: G
authors.initials: G
authors.lastname: Takada
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000844:Ankylosis / Q000235:genetics; D019485:Bone Morphogenetic Proteins / Q000037:antagonists & inhibitors; D002352:Carrier Proteins; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D019066:Facies; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006314:Hearing Loss, Conductive / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D011506:Proteins / Q000235:genetics*; D013577:Syndrome; D013580:Synostosis / Q000235:genetics*; D014034:Toes / Q000002:abnormalities*; D000099176:Noggin Protein
chemical_list: D019485:Bone Morphogenetic Proteins; D002352:Carrier Proteins; D011506:Proteins; D000099176:Noggin Protein