Identification of a novel missense mutation of the SMN super(T) gene in two siblings with spinal muscular atrophy
Spinal muscular atrophy (SMA) is a motor neuron disease caused by mutations in the telomeric copy of the survival motor neuron ( SMN super( T ) ) gene. Over 90% of SMA patients harbor a deletion of SMN super( T ) , but relatively few base-pair mutations have been reported. We report here a novel G27...
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| Published in: | Neurogenetics Vol. 1; no. 4; pp. 273 - 276 |
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| Main Authors: | , , , |
| Format: | Journal Article |
| Language: | English |
| Published: |
01-08-1998
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| Online Access: | Get full text |
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| Summary: | Spinal muscular atrophy (SMA) is a motor neuron disease caused by mutations in the telomeric copy of the survival motor neuron ( SMN super( T ) ) gene. Over 90% of SMA patients harbor a deletion of SMN super( T ) , but relatively few base-pair mutations have been reported. We report here a novel G279C mutation with a G to T transversion on exon 7 (nucleotide position 868) of SMN super( T ) . Another missense mutation has been reported recently on position 869. The fact that two mutations on the same codon both result in SMA suggest a functional significance of this amino acid within the SMN protein. |
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| Bibliography: | ObjectType-Article-2 SourceType-Scholarly Journals-1 content type line 23 ObjectType-Feature-1 |
| ISSN: | 1364-6745 |
| DOI: | 10.1007/s100480050040 |