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. 2021 Mar 23;14(1):110.
doi: 10.1186/s13104-021-05526-7.

Screening of the duplication 24 pb of ARX gene in Moroccan patients with X-linked Intellectual Disability

Yousra Benmakhlouf  1 , Renaud Touraine  2 , Ines Harzallah  2 , Zeineb Zian  3 , Kaoutar Ben Makhlouf  4 , Amina Barakat  3 , Naima Ghailani Nourouti  3 , Mohcine Bennani Mechita  3
Affiliations

Screening of the duplication 24 pb of ARX gene in Moroccan patients with X-linked Intellectual Disability

Yousra Benmakhlouf et al. BMC Res Notes. .

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.

Keywords: ARX; Duplication 24 pb; Morocco; Nonsyndromic ID; X-linked intellectual disability.

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Conflict of interest statement

The authors have declared no conflict of interest.

Figures

Fig. 1
Fig. 1
Electrophoresis of the PCR products for detection of the dup c.428–451 (24 pb) in exon 2 of the ARX gene in the affected male compared with the control (T+). A1-A6: males patients with XLID; Ladder: DNA 1000 Ladder; T+: Control (positive dup c.428–451 (24 pb). None c.428-451dup (24 pb) was found in our milder NS-ID patients
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