Screening of the duplication 24 pb of ARX gene in Moroccan patients with X-linked Intellectual Disability
| Autor: | Zeineb Zian, Renaud Touraine, Naima Ghailani Nourouti, Amina Barakat, Kaoutar Ben Makhlouf, Ines Harzallah, Mohcine Bennani Mechita, Yousra Benmakhlouf |
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| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Male X-linked intellectual disability Population lcsh:Medicine 030105 genetics & heredity Biology medicine.disease_cause General Biochemistry Genetics and Molecular Biology 03 medical and health sciences Exon 0302 clinical medicine Intellectual Disability Intellectual disability Gene duplication medicine Humans Genetic Testing lcsh:Science (General) education lcsh:QH301-705.5 Gene Genetics Homeodomain Proteins Mutation education.field_of_study lcsh:R Genes Homeobox Duplication 24 pb General Medicine medicine.disease Research Note Nonsyndromic ID Morocco lcsh:Biology (General) dup ARX 030217 neurology & neurosurgery lcsh:Q1-390 Transcription Factors |
| Zdroj: | BMC Research Notes BMC Research Notes, Vol 14, Iss 1, Pp 1-5 (2021) |
| ISSN: | 1756-0500 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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