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Autosomal recessive spinal muscular atrophy is a motor neuron disease which affects about 1 in 10,000 births. Recent evidence shows that the candidate region contains multiple copies of genes and pseudogenes and is characterised by genome instability. We have analysed the frequency of deletions in a recently characterised candidate survival motor neuron (SMN) gene. Our data confirm previous analyses and show that this gene is disrupted by deletion in SMA patients. The same deletion frequency is observed in the milder variants of the disease as in patients with the severe form. In addition, we observed one case of a new mutation in a family previously thought not to be segregating for a chromosome 5 linked form of SMA. This assay is a very good diagnostic for SMA although no direct correlation between phenotype and genotype is apparent and carrier status cannot be determined. The implications for the identification of the gene or genes causing the disease are discussed.

Original publication

DOI

10.1093/hmg/4.4.631

Type

Journal article

Journal

Hum Mol Genet

Publication Date

04/1995

Volume

4

Pages

631 - 634

Keywords

Chromosomes, Human, Pair 5, Genes, Recessive, Humans, Motor Neurons, Muscular Atrophy, Spinal, Phenotype, Polymorphism, Single-Stranded Conformational, Sequence Deletion