Non-syndromic autosomal recessive mental retardation in Tunisian families : exclusion of GRIK2 and TUSC3 genes

Tunis Med. 2011 May;89(5):479-84.

Abstract

Background: Mental retardation is one of the most frequent major handicap, with a 1-3 % frequency in the general population, it appear a major problem of public health. The recent progress of molecular biology and cytogenetic allowed to identify new genes for non syndromic autosomal recessive mental retardation (NSAR-MR).

Aim: Genetic analysis of NSAR-MR: the GRIK2 gene (6q16.3-q21) and the TUSC3 gene (8p22).

Methods: Four Tunisian families with NSAR-MR were included in this study. Genotyping was made using polymorphic microsatellite markers and statistical analysis was validated using the Fast Link programme of the Easy linkage software (V4:00beta).

Results: Genotyping and linkage analysis excluded linkage of the GRIK2 gene and TUSC3 gene.

Conclusion: Our results confirm the extreme genetic heterogeneity of NSAR-MR.

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Consanguinity
  • DNA Mutational Analysis
  • Family
  • Female
  • Genes, Recessive*
  • Genetic Linkage
  • GluK2 Kainate Receptor
  • Humans
  • Intellectual Disability / genetics*
  • Male
  • Membrane Proteins / genetics*
  • Membrane Proteins / physiology
  • Pedigree
  • Receptors, Kainic Acid / genetics*
  • Receptors, Kainic Acid / physiology
  • Syndrome
  • Tumor Suppressor Proteins / genetics*
  • Tumor Suppressor Proteins / physiology
  • Tunisia
  • Young Adult

Substances

  • Membrane Proteins
  • Receptors, Kainic Acid
  • TUSC3 protein, human
  • Tumor Suppressor Proteins