Annals of Indian Academy of Neurology
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Year : 2013  |  Volume : 16  |  Issue : 1  |  Page : 57-61

Deletion analysis of SMN and NAIP genes in Tunisian patients with spinal muscular atrophy

Department of Neurology, HabibBourguiba University Hospital, FacultÚ de medecine de Sfax, Sfax, Tunisia

Correspondence Address:
Amir Boukhris
Service de Neurologie, H˘pital Habib Bourguiba, 3029, Sfax
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0972-2327.107704

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Background: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder involving degeneration of anterior horn cells of spinal cord, resulting in progressive muscle weakness and atrophy. Aims: The purpose of our study was to determine the frequency of SMN and NAIP deletions in Tunisian SMA patients. Materials and Methods: Polymerase chain reaction (PCR) combined with restriction fragment length polymorphism (RFLP) was used to detect the deletion of exon 7 and exon 8 of SMN1 gene, as well as multiplex PCR for exon 5 and 13 of NAIP gene. Results: Fifteen (45.4%) out of 33 SMA patients were homozygously deleted for exons 7 and/or 8 of SMN1. Homozygous deletion of NAIP gene was observed in 20% (3 / 15) of patients. Conclusions: The molecular diagnosis system based on PCR-RFLP analysis can conveniently be applied in the clinical testing, genetic counseling, prenatal diagnosis, and pre-implantation genetic diagnosis of SMA.

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