TY  - JOUR
AU  - Fatimazahra, Smaili
AU  - Khawla, Zerrouki
AU  - Ezzahra, Aouni Fatima
AU  - Ayad, Ghanam
AU  - Maria, Rkain
AU  - Abddeladim, Babakhouya
AU  - Mariam, Tajir
PY  - 2025
DA  - 2025/02/04
TI  - Clinical and Molecular Profile of Dystrophin Gene Deletions in Eastern Morocco
JO  - OBM Genetics
SP  - 283
VL  - 09
IS  - 01
AB  - Dystrophinopathies are genetic muscular disorders with recessive inheritance linked to the X chromosome due to mutations in the dystrophin gene, the DMD gene located in Xp21. The best-known forms are Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). Our study aims to determine the molecular profile and genotype/phenotype correlations of dystrophinopathies in the eastern region of Morocco. We report patients referred for 4 years (2020-2023) to the Medical Genetics Laboratory of the Mohammed VI University Hospital in Oujda for suspected dystrophinopathy and confirmed by a genetic study of the DMD gene using the PCR- Multiplex technique. A total of 15 patients were recruited. They had a mean age of 7.3 years at diagnosis, with a mean age of symptom onset of 3.37 years. Consanguinity was estimated at 46.66%, with 13.33% of familial forms. All patients have a DMD phenotype; calf hypertrophy was present in 86.66% of cases, a positive GOWERS sign, and elevated CK levels were present in all patients. Analysis of the DMD gene using the PCR-Multiplex technique showed that 80% of deletions are located in the central region of the gene, exon 50 being the most frequently deleted. 80% of patients had a deletion disrupting the reading frame, and the genotype/phenotype correlation in these cases was explained by the Monaco rule. The molecular analysis of the DMD gene is essential for accurate diagnosis, appropriate genetic counseling, and improved patient care. The PCR-Multiplex technique remains a good first-line strategy in the public health system, with a good cost/benefit ratio, enabling the detection of large deletions by analyzing the most frequently deleted exons. Dystrophinopathies represent a frequent reason for requesting genetic analysis in our practice. Multiplex PCR being a simple, rapid, non-invasive and cost-effective tool allowed us to provide a molecular description of this pathology in Eastern Morocco. 
SN  - 2577-5790
UR  - https://doi.org/10.21926/obm.genet.2501283
DO  - 10.21926/obm.genet.2501283
ID  - Fatimazahra2025
ER  -