Molecular analysis of the SMN1 and NAIP genes in 60 Tunisian spinal muscular atrophy patients

In this study we examined the deletion of SMN and NAIP genes in 60 Tunisian families. There were 35 patients with type I SMA. 18 with type II SMA. 6 with type III SMA and I with type IV SMA. The age of onset was before 6 months for type I, between 6 months and 2 years for type II, between 2 years an...

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Published inTunisie Medicale Vol. 84; no. 8; p. 465
Main Authors Mrad, Ridha, Dorboz, Imen, Ben Jemaa, Lamia, Maazoul, Faouzi, Trabelsi, Madiha, Chaabouni, Meriem, Mlaiki, Brahim, Miladi, Nakjoua, Hentati, Faycel, Chaabouni, Habiba
Format Journal Article
LanguageEnglish
Published Tunisia 01.08.2006
Subjects
Cohort Studies
Cyclic AMP Response Element-Binding Protein - genetics
Exons
Gene Deletion
Homozygote
Humans
Muscular Atrophy, Spinal - genetics
Nerve Tissue Proteins - genetics
Neuronal Apoptosis-Inhibitory Protein - genetics
RNA-Binding Proteins - genetics
SMN Complex Proteins
Survival of Motor Neuron 1 Protein
Tunisia
Tunisia
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Summary:In this study we examined the deletion of SMN and NAIP genes in 60 Tunisian families. There were 35 patients with type I SMA. 18 with type II SMA. 6 with type III SMA and I with type IV SMA. The age of onset was before 6 months for type I, between 6 months and 2 years for type II, between 2 years and 17 years for type III and 30 years for type IV. Exon 7 of SMNI gene was homozygously deleted in 95% (57/60) of SMA patients. There was a higher frequency of homozygous absence of SMN1 in type I and type II (100% and 94% respectively) than in type III (66,7%). SMN1 exon 8 was undetectable in 88% (53/60) of patients. The case type II patient with homozygous deletion of SMNI exon 7 and not exon 8 was tested for the presence of a hybrid SMN gene. This patient showed in the second PCR a SMN1 exon 8 product by restriction site assay indicating that a gene conversion event had occurred. All parents' individuals retained one copy of their SMN1 gene. Exon 5 of NAIP gene was homozygously deleted in 58% (35/60) of patients (77% in type I (27/35), 27,7% in type II (5/18), 50% (3/6) in type III. No patient had a deletion in NAIP gene without a deletion in the SMN1 gene. Homozygous deletion of NAIP exon 5 was detected in 1 parent. Our results show that the incidence of NAIP deletion is higher in the more severe SMA cases.
ISSN:0041-4131