Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 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.

PubMed Disclaimer

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
See this image and copyright information in PMC

References

    1. S. Miot, C. Jeandel, A. Baghdadli, H. Blain, Le vieillissement des personnes en situation de handicap mental et le cas particulier du syndrome de Down. NPG Neurol. - Psychiatr. - Gériatrie, 18(104):69‑77. http://doi.org/10.1016/j.npg.2018.01.004.
    1. S, Ghadami, Eshaghkhani Y. ARX gene with an impressive role in X-linked intellectual disability. J Genet Mol Biol. 2019;3:1. doi: 10.35841/genetics-molecular-biology.3.5-14. - DOI
    1. Depositario-Cabacar DF, T., et Tesfaye-Getaneh Zelleke. Treatment of epilepsy in children with developmental disabilities. Dev Disabil Res Rev. 2010;16(3):239–247. doi: 10.1002/ddrr.116. - DOI - PubMed
    1. Mattiske T, Tan MH, Dearsley O, Cloosterman D, Hii CS, Gécz J, Shoubridge C. Regulating transcriptional activity by phosphorylation: a new mechanism for the ARX homeodomain transcription factor. PLoS ONE. 2018;13(11):e0206914. doi: 10.1371/journal.pone.0206914. - DOI - PMC - PubMed
    1. Suri M. The phenotypic spectrum of ARX mutations. Dev Med Child Neurol. 2005;47(2):133–137. doi: 10.1111/j.1469-8749.2005.tb01102.x. - DOI - PubMed