Localization of a gene for oculodentodigital syndrome to human chromosome 6q22-q24

Hum Mol Genet. 1997 Jan;6(1):123-7. doi: 10.1093/hmg/6.1.123.

Abstract

Oculodentodigital syndrome (ODD) is a congenital, autosomal dominant disorder which affects the development of the face, eyes, limbs and dentition. Spastic paraparesis is thought to be an occasional manifestation of the disorder. Type III syndactyly, which occurs as part of ODD, has also been reported to occur as an isolated entity. In the current investigation, a total genome search for the location of the ODD locus was instigated and linkage to polymorphic markers located on chromosome 6q established (pairwise Zmax = 9.37; theta = 0.001). Analysis of a large family with type III syndactyly, but atypical facial features, further suggested that isolated type III syndactyly is also located in this same region of the genome.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 6*
  • Eye Abnormalities / genetics
  • Face / abnormalities
  • Female
  • Genetic Markers
  • Humans
  • Limb Deformities, Congenital
  • Male
  • Pedigree
  • Syndactyly / genetics*
  • Syndrome
  • Tooth Abnormalities / genetics

Substances

  • Genetic Markers