Identification of a novel NOG gene mutation (P35S) in an Italian family with symphalangism.

M. Mangino, E. Flex, M. C. Digilio, A. Giannotti, B. Dallapiccola

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)308
Number of pages1
JournalHuman Mutation
Volume19
Issue number3
Publication statusPublished - Mar 2002

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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