Identification of a new mutation (L46P) in the human NOG gene in an Italian patient with Symphalangism syndrome

E. Athanasakis, X. Biarnés, M. T. Bonati, P. Gasparini, F. Faletra

Research output: Contribution to journalArticlepeer-review


Proximal symphalangism (SYM1) is a joint morphogenesis disorder characterized by stapes ankylosis, proximal interphalangeal joint fusion, skeletal anomalies and conductive hearing loss. Noggin is a bone morphogenetic protein (BMP) antagonist essential for normal bone and joint development in humans and mice. Autosomal dominant mutations have been described in the NOG gene, encoding the noggin protein. We analyzed an Italian sporadic patient with SYM1 due to a novel NOG mutation (L46P) based on a c.137T>C transition. A different pathogenic mutation in the same codon (L46D) has been previously described in an in vivo chicken model. An in silico model shows a decreased binding affinity between noggin and BMP7 for both L46D and L46P compared to the wild type. Therefore, this codon should play an important role in BMP7 binding activity of the noggin protein and consequently to the joint morphogenesis.

Original languageEnglish
Pages (from-to)21-24
Number of pages4
JournalMolecular Syndromology
Issue number1
Publication statusPublished - Jun 2012


  • BMP7
  • In silico
  • L46
  • Mutation
  • NOG
  • Noggin
  • Proximal symphalangism

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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