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

BMC Research Notes

Kaoutar Ben Makhlouf¹  Yousra Benmakhlouf²  Naima Ghailani Nourouti²  Mohcine Bennani Mechita²  Zeineb Zian²  Amina Barakat²  Ines Harzallah³  Renaud Touraine³ 

[1] BOUDRA Fertility Center (BFC) for Assisted Reproduction, Fez, Morocco;Biomedical Genomics and Oncogenetics Research Laboratory, Faculty of Sciences and Techniques of Tangier, University Abdelmalek Essaadi, P.B.:416, Tangier, Morocco;Molecular Genetics Laboratory, CHU, Saint Etienne, France;

关键词: Duplication 24 pb;    ARX;    X-linked intellectual disability;    Nonsyndromic ID;    Morocco;   

DOI  :  10.1186/s13104-021-05526-7

来源: Springer

【 摘 要 】

ObjectiveIntellectual 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.ResultsOur 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.

【 授权许可】

CC BY