title: Identification of a novel NOG gene mutation (P35S) in an Italian family with symphalangism.
abstract: Symphalangism (SYM or SYM1) is an autosomal dominant disorder characterized by multiple joint fusions. The disease is caused by mutations of the NOG gene, that maps to chromosome 17q22. So far, only six independent NOG mutations have been identified. We have analysed an Italian family in which father and son had bilateral symphalangism and detected a novel NOG mutation (P35S), originated in the father from a c.914C>T transition. A different mutation in the same codon (P35R) has been previously described. Comparison between different noggin gene hortologs shows that codon 35 is conserved. Therefore, this codon should play an important role in NOG gene function. This is the first mutation described for NOG after the initial report of NOG mutations being causative of SYM.
authors.affiliation: C.S.S. Mendel Institute and University La Sapienza, Rome, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Mangino
authors.forename: E
authors.initials: E
authors.lastname: Flex
authors.forename: M C
authors.initials: MC
authors.lastname: Digilio
authors.forename: A
authors.initials: A
authors.lastname: Giannotti
authors.forename: B
authors.initials: B
authors.lastname: Dallapiccola
mesh_terms: D000595:Amino Acid Sequence / Q000235:genetics; D019943:Amino Acid Substitution / Q000235:genetics; D019485:Bone Morphogenetic Proteins / Q000037:antagonists & inhibitors / Q000235:genetics; D002352:Carrier Proteins; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D005260:Female; D005384:Finger Joint / Q000002:abnormalities*; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007558:Italy; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D011392:Proline / Q000235:genetics*; D017433:Protein Structure, Secondary; D011506:Proteins / Q000235:genetics*; D012694:Serine / Q000235:genetics*; D014033:Toe Joint / Q000002:abnormalities*; D000099176:Noggin Protein
chemical_list: D019485:Bone Morphogenetic Proteins; D002352:Carrier Proteins; D011392:Proline; D011506:Proteins; D012694:Serine; D000099176:Noggin Protein