Missense mutation of TRPS1 in a family of tricho-rhino-phalangeal syndrome type III

Am J Med Genet. 2002 Jan 1;107(1):26-9. doi: 10.1002/ajmg.10081.

Abstract

We report a new Japanese family with tricho-rhino-phalangeal syndrome type III (TRPS III) who have a missense mutation (Arg908Gln) of theTRPS1 gene (TRPS1) in affected individuals of the family. This study supports the notion that TRPS III results from missense mutations in exon 6 of TRPS1.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA-Binding Proteins / genetics*
  • Exons
  • Female
  • Humans
  • Langer-Giedion Syndrome / genetics*
  • Langer-Giedion Syndrome / physiopathology
  • Male
  • Middle Aged
  • Mutation, Missense*
  • Neoplasm Proteins*
  • Nuclear Proteins / genetics*
  • Pedigree
  • Repressor Proteins
  • Transcription Factors
  • Zinc Fingers*

Substances

  • DNA-Binding Proteins
  • Neoplasm Proteins
  • Nuclear Proteins
  • Repressor Proteins
  • TRPS1 protein, human
  • Transcription Factors