title: Correlation of SMN2, NAIP, p44, H4F5 and Occludin genes copy number with spinal muscular atrophy phenotype in Tunisian patients.
abstract: OBJECTIVE
  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.
  
  
  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.
  
  
  CONCLUSIONS
  There is a close relationship between SMN2, NAIP and H4F5 gene copy number and SMA disease severity, which is compatible with the previous reports.
authors.affiliation: Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Street Ibn ELJAZZAR, 4000 Sousse, Tunisia. Abdelbasset.Amara@mailpost.tn
authors.forename: Abdelbasset
authors.initials: A
authors.lastname: Amara
authors.forename: Labiba
authors.initials: L
authors.lastname: Adala
authors.forename: Ilhem
authors.initials: I
authors.lastname: Ben Charfeddine
authors.forename: Ons
authors.initials: O
authors.lastname: Mamaï
authors.forename: Amira
authors.initials: A
authors.lastname: Mili
authors.forename: Taheni Ben
authors.initials: TB
authors.lastname: Lazreg
authors.forename: Dorra
authors.initials: D
authors.lastname: H'mida
authors.forename: Fathi
authors.initials: F
authors.lastname: Amri
authors.forename: Najla
authors.initials: N
authors.lastname: Salem
authors.forename: Lamia
authors.initials: L
authors.lastname: Boughammura
authors.forename: Ali
authors.initials: A
authors.lastname: Saad
authors.forename: Moez
authors.initials: M
authors.lastname: Gribaa
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D018628:Gene Dosage; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D060885:Multiplex Polymerase Chain Reaction; D009419:Nerve Tissue Proteins / Q000235:genetics*; D051616:Neuronal Apoptosis-Inhibitory Protein / Q000235:genetics*; D062793:Occludin; D010641:Phenotype; D014897:Spinal Muscular Atrophies of Childhood / Q000235:genetics*; D055533:Survival of Motor Neuron 1 Protein / Q000235:genetics; D055540:Survival of Motor Neuron 2 Protein / Q000235:genetics; D016615:Telomere / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics*; D014416:Tunisia; D055815:Young Adult
chemical_list: D008565:Membrane Proteins; C496800:NAIP protein, human; D009419:Nerve Tissue Proteins; D051616:Neuronal Apoptosis-Inhibitory Protein; C568985:OCLN protein, human; D062793:Occludin; C114841:SERF1A protein, human; C526471:SMN1 protein, human; C526477:SMN2 protein, human; D055533:Survival of Motor Neuron 1 Protein; D055540:Survival of Motor Neuron 2 Protein; D014157:Transcription Factors; C478359:WDR77 protein, human