title: Non-syndromic autosomal recessive mental retardation in Tunisian families : exclusion of GRIK2 and TUSC3 genes.
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).
  
  
  OBJECTIVE
  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.
  
  
  CONCLUSIONS
  Our results confirm the extreme genetic heterogeneity of NSAR-MR.
authors.affiliation: Laboratoire de Genetique Humaine de la faculte de medecine de Tunis, La Rabta, Tunis.
authors.forename: Oussama
authors.initials: O
authors.lastname: Mhamdi
authors.forename: Maher
authors.initials: M
authors.lastname: Kharrat
authors.forename: Ridha
authors.initials: R
authors.lastname: Mrad
authors.forename: Faouzi
authors.initials: F
authors.lastname: Maazoul
authors.forename: Habiba
authors.initials: H
authors.lastname: Chaabouni Bouhamed
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005190:Family; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics* / Q000502:physiology; D010375:Pedigree; D018092:Kainic Acid Receptors / Q000235:genetics* / Q000502:physiology; D013577:Syndrome; D025521:Tumor Suppressor Proteins / Q000235:genetics* / Q000502:physiology; D014416:Tunisia; D055815:Young Adult; D000097806:GluK2 Kainate Receptor
chemical_list: D008565:Membrane Proteins; D018092:Kainic Acid Receptors; D025521:Tumor Suppressor Proteins; D000097806:GluK2 Kainate Receptor; C524338:TUSC3 protein, human