Yousra Benmakhlouf1, Renaud Touraine2, Ines Harzallah2, Zeineb Zian3, Kaoutar Ben Makhlouf4, Amina Barakat3, Naima Ghailani Nourouti3, Mohcine Bennani Mechita3. 1. Biomedical Genomics and Oncogenetics Research Laboratory, Faculty of Sciences and Techniques of Tangier, University Abdelmalek Essaadi, P.B.:416, Tangier, Morocco. yousra.bmk@gmail.com. 2. Molecular Genetics Laboratory, CHU, Saint Etienne, France. 3. Biomedical Genomics and Oncogenetics Research Laboratory, Faculty of Sciences and Techniques of Tangier, University Abdelmalek Essaadi, P.B.:416, Tangier, Morocco. 4. BOUDRA Fertility Center (BFC) for Assisted Reproduction, Fez, Morocco.
Abstract
OBJECTIVE: Intellectual Disability (ID) represents a neuropsychiatric disorder, which its etiopathogenesis remains insufficiently understood. Mutations in the Aristaless Related Homeobox gene (ARX) have been identified to cause syndromic and nonsyndromic (NS-ID). The most recurrent mutation of this gene is a duplication of 24pb, c.428-451dup. Epidemiological and genetic studies about ID in the Moroccan population remain very scarce, and none study is carried out on the ARX gene. This work aimed to study c.428-451dup (24 bp) mutation in the exon 2 of the ARX gene in 118 males' Moroccan patients with milder NS-ID to evaluate if the gene screening is a good tool for identifying NS-ID. RESULTS: Our mutational analysis did not show any dup(24pb) in our patients. This is because based on findings from previous studies that found ARX mutations in 70% of families with NS-ID, and in most cases, 1.5-6.1% of individuals with NS-ID have this duplication. Since 1/118 = 0.0084 (0.84%) is not much different from 1.5%, then it is reasonable that this could a sample size artifact. A complete screening of the entire ARX gene, including the five exons, should be fulfilled. Further investigations are required to confirm these results.
OBJECTIVE: Intellectual Disability (ID) represents a neuropsychiatric disorder, which its etiopathogenesis remains insufficiently understood. Mutations in the Aristaless Related Homeobox gene (ARX) have been identified to cause syndromic and nonsyndromic (NS-ID). The most recurrent mutation of this gene is a duplication of 24pb, c.428-451dup. Epidemiological and genetic studies about ID in the Moroccan population remain very scarce, and none study is carried out on the ARX gene. This work aimed to study c.428-451dup (24 bp) mutation in the exon 2 of the ARX gene in 118 males' Moroccan patients with milder NS-ID to evaluate if the gene screening is a good tool for identifying NS-ID. RESULTS: Our mutational analysis did not show any dup(24pb) in our patients. This is because based on findings from previous studies that found ARX mutations in 70% of families with NS-ID, and in most cases, 1.5-6.1% of individuals with NS-ID have this duplication. Since 1/118 = 0.0084 (0.84%) is not much different from 1.5%, then it is reasonable that this could a sample size artifact. A complete screening of the entire ARX gene, including the five exons, should be fulfilled. Further investigations are required to confirm these results.
Authors: Arjan P M de Brouwer; Helger G Yntema; Tjitske Kleefstra; Dorien Lugtenberg; Astrid R Oudakker; Bert B A de Vries; Hans van Bokhoven; Hilde Van Esch; Suzanne G M Frints; Guy Froyen; Jean-Pierre Fryns; Martine Raynaud; Marie-Pierre Moizard; Nathalie Ronce; Anissa Bensalem; Claude Moraine; Karine Poirier; Laetitia Castelnau; Yoann Saillour; Thierry Bienvenu; Chérif Beldjord; Vincent des Portes; Jamel Chelly; Gillian Turner; Tod Fullston; Jozef Gecz; Andreas W Kuss; Andreas Tzschach; Lars Riff Jensen; Steffen Lenzner; Vera M Kalscheuer; Hans-Hilger Ropers; Ben C J Hamel Journal: Hum Mutat Date: 2007-02 Impact factor: 4.878
Authors: Minaka Ishibashi; Elizabeth Manning; Cheryl Shoubridge; Monika Krecsmarik; Thomas A Hawkins; Jean Giacomotto; Ting Zhao; Thomas Mueller; Patricia I Bader; Sau W Cheung; Pawel Stankiewicz; Nicole L Bain; Anna Hackett; Chilamakuri C S Reddy; Alejandro S Mechaly; Bernard Peers; Stephen W Wilson; Boris Lenhard; Laure Bally-Cuif; Jozef Gecz; Thomas S Becker; Silke Rinkwitz Journal: Hum Genet Date: 2015-09-04 Impact factor: 4.132