title: Gene deletions in spinal muscular atrophy.
abstract: Two candidate genes (NAIP and SMN) have recently been reported for childhood onset spinal muscular atrophy (SMA). Although affected subjects show deletions of these genes, these deletions can lead to either a very mild or a severe phenotype. We have analysed a large number of clinically well defined patients, carriers, and normal controls to assess the frequency and extent of deletions encompassing both of these genes. A genotype analysis indicates that more extensive deletions are seen in the severe form of SMA than in the milder forms. In addition, 1 center dot 9% of phenotypically normal carriers are deleted for the NAIP gene; no carriers were deleted for the SMN gene. Our data suggest that deletions in both of these genes, using the currently available assays, are associated with both a severe and very mild phenotype.
authors.affiliation: Genetics Laboratory, Department of Genetics, University of Oxford, UK.
authors.forename: N R
authors.initials: NR
authors.lastname: Rodrigues
authors.forename: N
authors.initials: N
authors.lastname: Owen
authors.forename: K
authors.initials: K
authors.lastname: Talbot
authors.forename: S
authors.initials: S
authors.lastname: Patel
authors.forename: F
authors.initials: F
authors.lastname: Muntoni
authors.forename: J
authors.initials: J
authors.lastname: Ignatius
authors.forename: V
authors.initials: V
authors.lastname: Dubowitz
authors.forename: K E
authors.initials: KE
authors.lastname: Davies
mesh_terms: D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D017362:Cyclic AMP Response Element-Binding Protein; D004252:DNA Mutational Analysis; D005387:Finland / Q000453:epidemiology; D017353:Gene Deletion; D005838:Genotype; D006801:Humans; D009134:Muscular Atrophy, Spinal / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D009419:Nerve Tissue Proteins / Q000172:deficiency / Q000235:genetics*; D051616:Neuronal Apoptosis-Inhibitory Protein; D010641:Phenotype; D018807:Polymorphism, Single-Stranded Conformational; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins; D006113:United Kingdom / Q000453:epidemiology
chemical_list: D017362:Cyclic AMP Response Element-Binding Protein; C496800:NAIP protein, human; D009419:Nerve Tissue Proteins; D051616:Neuronal Apoptosis-Inhibitory Protein; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins