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

Journal: La Tunisie medicale

Volume: 89

Issue: 5

Year of Publication: 2011

Affiliated Institutions:  Laboratoire de Genetique Humaine de la faculte de medecine de Tunis, La Rabta, Tunis.

Abstract summary 

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).Genetic analysis of NSAR-MR: the GRIK2 gene (6q16.3-q21) and the TUSC3 gene (8p22).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).Genotyping and linkage analysis excluded linkage of the GRIK2 gene and TUSC3 gene.Our results confirm the extreme genetic heterogeneity of NSAR-MR.

Authors & Co-authors:  Mhamdi Oussama O Kharrat Maher M Mrad Ridha R Maazoul Faouzi F Chaabouni Bouhamed Habiba H

Study Outcome 

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Statistics
Citations : 
Authors :  5
Identifiers
Doi : 
SSN : 0041-4131
Study Population
Male,Female
Mesh Terms
Adolescent
Other Terms
Study Design
Cross Sectional Study
Study Approach
Country of Study
Tunisia
Publication Country
Tunisia