The gene for Treacher Collins syndrome maps to the long arm of chromosome 5

Am J Hum Genet. 1991 Jul;49(1):17-22.


Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development, the features of which include conductive hearing loss and cleft palate. We have studied 12 unrelated TCS families with multiple affected individuals for linkage to five chromosome 5 markers. There is strong evidence demonstrating linkage to three of these markers. Multipoint linkage analysis places the mutation causing TCS in the interval between the gene for the glucocorticoid receptor and the anonymous marker D5S22, with a maximum multipoint lod score of 9.1.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Mapping*
  • Chromosomes, Human, Pair 5*
  • Diagnosis, Computer-Assisted
  • Genetic Linkage*
  • Humans
  • Mandibulofacial Dysostosis / genetics*
  • Pedigree
  • Polymorphism, Restriction Fragment Length