CAG repeat contraction in the androgen receptor gene in three brothers with mental retardation

Am J Med Genet. 1999 Jul 30;85(3):209-13.

Abstract

We report on three brothers with mental retardation and a contracted CAG repeat in the androgen receptor (AR) gene. It is known that expansion of the CAG repeat in this gene leads to spinal and bulbar muscular atrophy (SBMA or Kennedy disease); however, contracted repeats have not yet been implicated in disease. As the range of the length of CAG repeats in the AR gene, like those of other genes associated with dynamic mutations, follows a normal distribution, the theoretical possibility of disease at both ends of the distribution should be considered.

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Animals
  • COS Cells
  • DNA / chemistry
  • DNA / genetics
  • Family Health
  • Female
  • Follow-Up Studies
  • Humans
  • Intellectual Disability / genetics*
  • Male
  • Pedigree
  • Receptors, Androgen / genetics*
  • Sequence Analysis, DNA
  • Trinucleotide Repeats*
  • X Chromosome / genetics

Substances

  • Receptors, Androgen
  • DNA