Detection of novel mutations in the SMN Tudor domain in type I SMA patients.
case_series · Level IV
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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.
Medical subject headings
- Amino Acid Substitution
- Mutation, Missense
- Nerve Tissue Proteins
- Point Mutation
- Spinal Muscular Atrophies of Childhood