Cookies on this website

We use cookies to ensure that we give you the best experience on our website. If you click 'Accept all cookies' we'll assume that you are happy to receive all cookies and you won't see this message again. If you click 'Reject all non-essential cookies' only necessary cookies providing core functionality such as security, network management, and accessibility will be enabled. Click 'Find out more' for information on how to change your cookie settings.

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.

Original publication




Journal article


J Med Genet

Publication Date





93 - 96


Chromosomes, Human, Pair 5, Cyclic AMP Response Element-Binding Protein, DNA Mutational Analysis, Finland, Gene Deletion, Genotype, Humans, Muscular Atrophy, Spinal, Nerve Tissue Proteins, Neuronal Apoptosis-Inhibitory Protein, Phenotype, Polymorphism, Single-Stranded Conformational, RNA-Binding Proteins, SMN Complex Proteins, United Kingdom