title: Deletion analysis of SMN and NAIP genes in Tunisian patients with spinal muscular atrophy.
abstract: 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.
  
  
  OBJECTIVE
  The purpose of our study was to determine the frequency of SMN and NAIP deletions in Tunisian SMA patients.
  
  
  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.
authors: Department of Neurology, HabibBourguiba University Hospital, Faculté de medecine de Sfax, Sfax, Tunisia.
authors: Imen
authors: I
authors: Rekik
authors: Amir
authors: A
authors: Boukhris
authors: Sourour
authors: S
authors: Ketata
authors: Mohamed
authors: M
authors: Amri
authors: Nourhene
authors: N
authors: Essid
authors: Imed
authors: I
authors: Feki
authors: Chokri
authors: C
authors: Mhiri
keywords: Neuronal apoptosis inhibitory protein (NAIP) gene; spinal muscular atrophy; survival motor neuron (SMN) gene
references: Ann Acad Med Singap. 2009 Feb;38(2):139-41
references: 19271042
references: Am J Hum Genet. 2007 Jul;81(1):67-76
references: 17564964
references: Cell. 1995 Jan 13;80(1):167-78
references: 7813013
references: Arch Neurol. 2007 Feb;64(2):225-31
references: 17296838
references: Hum Mol Genet. 1995 Apr;4(4):631-4
references: 7633412
references: Cell. 1995 Jan 13;80(1):155-65
references: 7813012
references: Am J Hum Genet. 1996 Oct;59(4):834-8
references: 8808598
references: Pediatr Int. 2007 Feb;49(1):11-4
references: 17250498
references: Curr Opin Genet Dev. 2002 Jun;12(3):294-8
references: 12076672
references: Am J Hum Genet. 1995 Dec;57(6):1503-5
references: 8533782
references: Lancet. 1995 Apr 15;345(8955):985-6
references: 7715313
references: Nat Genet. 2004 Jun;36(6):602-6
references: 15122254
references: Neurol India. 2006 Sep;54(3):255-9
references: 16936383
references: Am J Hum Genet. 1995 Oct;57(4):805-8
references: 7573039
references: Am J Hum Genet. 1999 May;64(5):1340-56
references: 10205265
references: Acta Paediatr Jpn. 1997 Oct;39(5):584-9
references: 9363657
references: Expert Rev Mol Diagn. 2004 Jan;4(1):15-29
references: 14711346
references: Arch Dis Child. 1998 Jun;78(6):531-5
references: 9713008
references: Arch Neurol. 1995 May;52(5):518-23
references: 7733848
references: Tunis Med. 2006 Aug;84(8):465-9
references: 17175684
references: Neuromuscul Disord. 2003 Feb;13(2):179-83
references: 12565918
references: Hum Mol Genet. 2000 Oct 12;9(17):2479-89
references: 11030753
references: J Med Genet. 1999 Jan;36(1):1-8
references: 9950358