Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy

DNA studies in 103 spinal muscular atrophy (SMA) patients from The Netherlands revealed homozygosity for a survival motor neuron (SMN) deletion in 96 (93%) of 103. Neuronal apoptosis inhibitory protein deletions were found in 38 (37%) of 103 and occurred most frequently in SMA type I. SMN deletions...

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Bibliographic Details
Published in:American journal of human genetics 1995-10, Vol.57 (4), p.805-808
Main Authors: COBBEN, J. M, VAN DER STEEGE, G, GROOTSCHOLTEN, P, DE VISSER, M, SCHEFFER, H, BUYS, C. H. C. M
Format: Article
Language:English
Subjects:
Biological and medical sciences
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
deletion
DNA - analysis
Gene Deletion
Humans
man
Medical sciences
motor neurons
Motor Neurons - chemistry
Muscular Atrophy, Spinal - genetics
NAIP gene
Neurology
neuronal apoptosis inhibitory protein
Nuclear Family
Pedigree
SMN gene
spinal muscular atrophy
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Summary:DNA studies in 103 spinal muscular atrophy (SMA) patients from The Netherlands revealed homozygosity for a survival motor neuron (SMN) deletion in 96 (93%) of 103. Neuronal apoptosis inhibitory protein deletions were found in 38 (37%) of 103 and occurred most frequently in SMA type I. SMN deletions have not yet been described to occur in healthy subjects. In this study, however, four unaffected sibs from two SMA families showed homozygosity for SMN deletions. Homozygosity for an SMN deletion in unaffected persons seems to be very rare. Therefore, demonstration of a homozygous SMN deletion in a clinically presumed SMA patient should be considered as a confirmation of the diagnosis, whether or not SMN is in fact the causal gene for SMA.
ISSN:0002-9297
1537-6605