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.
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.
Authors: Ravindra N Singh; Matthew D Howell; Eric W Ottesen; Natalia N Singh Journal: Biochim Biophys Acta Gene Regul Mech Date: 2017-01-15 Impact factor: 4.490
Authors: L Theodorou; P Nicolaou; P Koutsou; A Georghiou; V Anastasiadou; G Tanteles; T Kyriakides; E Zamba-Papanicolaou; K Christodoulou Journal: Neurol Sci Date: 2015-05-28 Impact factor: 3.307
Authors: Y Sifi; K Sifi; A Boulefkhad; N Abadi; Z Bouderda; R Cheriet; M Magen; J P Bonnefont; A Munnich; C Benlatreche; A Hamri Journal: J Neurodegener Dis Date: 2013-03-24
Authors: Modibo Sangaré; Brant Hendrickson; Hammadoun Ali Sango; Kelian Chen; Jonathan Nofziger; Abdelbasset Amara; Amalia Dutra; Alice B Schindler; Aldiouma Guindo; Mahamadou Traoré; George Harmison; Evgenia Pak; Fatoumata N'Go Yaro; Katherine Bricceno; Christopher Grunseich; Guibin Chen; Manfred Boehm; Kristen Zukosky; Nouhoum Bocoum; Katherine G Meilleur; Fatoumata Daou; Koumba Bagayogo; Yaya Ibrahim Coulibaly; Mahamadou Diakité; Michael P Fay; Hee-Suk Lee; Ali Saad; Moez Gribaa; Andrew B Singleton; Youssoufa Maiga; Sungyoung Auh; Guida Landouré; Rick M Fairhurst; Barrington G Burnett; Thomas Scholl; Kenneth H Fischbeck Journal: Ann Neurol Date: 2014-04-02 Impact factor: 10.422