First combined analysis of SMN1, SMN2, and NAIP copy numbers in Moroccan SMA patients and their correlation with disease severity

This study demonstrated an inverse correlation between <i>SMN2</i> and <i>NAIP</i> copy numbers and SMA severity. Combined <i>SMN1</i>-<i>SMN2</i>-<i>NAIP</i> genotypes provided stronger predictive insights on disease severity than individual gene copy number. Implementing CNV analysis of these genes in Morocco could enhance SMA severity prediction and support genetic counseling.

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Publication Details

Journal
Molecular Genetics and Metabolism Reports
Published
2026-02-22
DOI
https://doi.org/10.1016/j.ymgmr.2026.101299
Primary Topic
Neurogenetic and Muscular Disorders Research
Type
article
Field-Weighted Citation Impact
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article

First combined analysis of SMN1, SMN2, and NAIP copy numbers in Moroccan SMA patients and their correlation with disease severity

S. Trhanint, Laila Bouguenouch, Hanane Sayel, Karim Ouldim et al.
Molecular Genetics and Metabolism Reports
Neurogenetic and Muscular Disorders Research
article

First combined analysis of SMN1, SMN2, and NAIP copy numbers in Moroccan SMA patients and their correlation with disease severity

S. Trhanint, Laila Bouguenouch, Hanane Sayel, Karim Ouldim, Samira Nmer, Sana Chaouki
article en

Abstract

This study demonstrated an inverse correlation between <i>SMN2</i> and <i>NAIP</i> copy numbers and SMA severity. Combined <i>SMN1</i>-<i>SMN2</i>-<i>NAIP</i> genotypes provided stronger predictive insights on disease severity than individual gene copy number. Implementing CNV analysis of these genes in Morocco could enhance SMA severity prediction and support genetic counseling.

Molecular Genetics and Metabolism ReportsVol. 46
Centre Hospitalier Universitaire Hassan II (MA), Sidi Mohamed Ben Abdellah University (MA)
Openalex Percentile: Top 47%
Neurogenetic and Muscular Disorders Research
DOIOpen Access PDFOpenAlex
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