Correlation of SMN2, NAIP, p44, H4F5 and Occludin genes copy number with spinal muscular atrophy phenotype in Tunisian patients.

Bibliographic Collection: 
MOCA Reference, APE
Publication Type: Journal Article
Authors: Amara, Abdelbasset; Adala, Labiba; Ben Charfeddine, Ilhem; Mamaï, Ons; Mili, Amira; Lazreg, Taheni Ben; H'mida, Dorra; Amri, Fathi; Salem, Najla; Boughammura, Lamia; Saad, Ali; Gribaa, Moez
Year of Publication: 2012
Journal: Eur J Paediatr Neurol
Volume: 16
Issue: 2
Pagination: 167-74
Date Published: 03/2012
Publication Language: eng
ISSN: 1532-2130
Keywords: Adolescent, Child, Child, Preschool, Chromosomes, Human, Pair 5, Exons, Female, Gene Deletion, Gene Dosage, Genotype, Humans, Infant, Male, Membrane Proteins, Multiplex Polymerase Chain Reaction, Nerve Tissue Proteins, Neuronal Apoptosis-Inhibitory Protein, Occludin, Phenotype, Spinal Muscular Atrophies of Childhood, Survival of Motor Neuron 1 Protein, Survival of Motor Neuron 2 Protein, Telomere, Transcription Factors, Tunisia, Young Adult

OBJECTIVES: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder which is characterized by a high clinical variability with severe, intermediate, mild and adult forms. These forms are caused, in 95% of cases, by a homozygous deletion of exon 7 of SMN1 gene. Our purpose was the determination of a possible genotype-phenotype correlation between the copy number of SMN2, NAIP, p44, H4F5 and occludin genes localized in the same SMN1 region (5q13) and the severity of the disease in SMA Tunisian patients.

PATIENTS AND METHODS: Twenty six patients affected by SMA were enrolled in our study. MLPA and QMPSF were used to measure copy numbers of these genes.

RESULTS: We found that 31.3% of type I patients carried one copy of SMN2, while all patients of other forms had at least 2 copies. NAIP was absent in 87.5% of type I patients. Furthermore, all SMA type I patients had one copy of H4F5. No correlation was found for p44 and occludin genes.

CONCLUSION: There is a close relationship between SMN2, NAIP and H4F5 gene copy number and SMA disease severity, which is compatible with the previous reports.

DOI: 10.1016/j.ejpn.2011.07.007
Alternate Journal: Eur. J. Paediatr. Neurol.