Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer-Giedion syndrome

Hum Mol Genet. 1995 Jan;4(1):31-6. doi: 10.1093/hmg/4.1.31.


The Langer-Giedion syndrome (tricho-rhino-phalangeal syndrome type II, TRPS II) is characterized by craniofacial dysmorphism and skeletal abnormalities. It combines the clinical features of TRPS I and multiple cartilaginous exostoses (EXT). We have used YAC cloning, Southern blotting, PCR analysis, and fluorescence in situ hybridization to study chromosome 8 deletions, translocations, an inversion, and an insertion in patients with TRPS I, TRPS II or EXT. Our results indicate that the TRPS gene maps more than 1,000 kb proximal to the EXT1 gene and that both genes are affected in TRPS II. We conclude that TRPS II is not due to pleiotropic effects of mutations in a single gene, but that it is a true contiguous gene syndrome.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Base Sequence
  • Chromosome Inversion
  • Chromosome Mapping
  • Chromosomes, Artificial, Yeast
  • Chromosomes, Human, Pair 8*
  • DNA Primers
  • Gene Deletion
  • Humans
  • In Situ Hybridization, Fluorescence
  • Langer-Giedion Syndrome / genetics*
  • Molecular Sequence Data
  • Mutagenesis, Insertional
  • Translocation, Genetic


  • DNA Primers