Abstract
The authors present a complete SMN gene analysis in four type I unrelated spinal muscular atrophy patients who retained one copy of the SMN1 gene. Two intragenic point mutations were identified in exon 3 (I116F, Q136E), affecting a very conserved region with the Tudor domain of SMN1. The remaining two patients showed no alterations in the SMN1 coding sequences although a transcription defect was detected in one of them, corroborating the existence of non-functional SMN1 genes.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Amino Acid Sequence
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Amino Acid Substitution*
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Cyclic AMP Response Element-Binding Protein
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DNA Mutational Analysis
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Exons / genetics
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Gene Deletion
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Genotype
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Humans
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Molecular Sequence Data
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Mutation, Missense*
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Nerve Tissue Proteins / genetics*
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Pedigree
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Phenotype
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Point Mutation*
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Protein Structure, Tertiary / genetics
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RNA-Binding Proteins
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SMN Complex Proteins
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Spain
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Spinal Muscular Atrophies of Childhood / genetics*
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Survival of Motor Neuron 1 Protein
Substances
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Cyclic AMP Response Element-Binding Protein
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Nerve Tissue Proteins
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RNA-Binding Proteins
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SMN Complex Proteins
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SMN1 protein, human
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Survival of Motor Neuron 1 Protein