title: Gene deletions in Arab patients with spinal muscular atrophy.
abstract: Spinal muscular atrophy is an autosomal recessive disorder characterized by degeneration of lower motor neurons. We have investigated the presence of survival motor neuron gene and neuronal apoptosis inhibitory protein gene deletions in 17 Arab and 1 Indian families with spinal muscular atrophy (15 type I and 3 type II). Homologous deletions were detected in exons 7 and 8 of the survival motor neuron gene and exon 5 of the neuronal apoptosis inhibitory protein gene in all patients with type I spinal muscular atrophy. Exon 13 of the neuronal apoptosis inhibitory protein gene was deleted in only one patient with type I spinal muscular atrophy. In two patients with type II spinal muscular atrophy, only exons 7 and 8 of the survival motor neuron gene were deleted whereas exons 5 and 13 of the neuronal apoptosis inhibitory protein gene were present. In another patient with spinal muscular atrophy type II, exons 7 and 8 of the survival motor neuron gene and exon 5 of the neuronal apoptosis inhibitory protein gene were deleted. This latter patient also had the Pierre Robin syndrome. No deletion was detected in healthy siblings or the parents. The deletions found in our patients are similar to those reported in other population groups.
authors.affiliation: Paediatrics Department, Faculty of Medicine, Kuwait University, Safat, Kuwait.
authors.forename: M Z
authors.initials: MZ
authors.lastname: Haider
authors.forename: A
authors.initials: A
authors.lastname: Moosa
mesh_terms: D017209:Apoptosis / Q000235:genetics; D018912:Arabs / Q000235:genetics*; D001445:Bahrain / Q000208:ethnology; D016022:Case-Control Studies; D002675:Child, Preschool; D005190:Family; D017353:Gene Deletion; D005838:Genotype; D006801:Humans; D007194:India / Q000208:ethnology; D007223:Infant; D007231:Infant, Newborn; D007730:Kuwait; D010641:Phenotype; D016133:Polymerase Chain Reaction; D012720:Severity of Illness Index; D014897:Spinal Muscular Atrophies of Childhood / Q000145:classification / Q000235:genetics*