title: Detection of novel mutations in the SMN Tudor domain in type I SMA patients.
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.
authors.affiliation: Department of Genetics, University Hospital Sant Pau, Barcelona, Spain.
authors.forename: I
authors.initials: I
authors.lastname: Cuscó
authors.forename: M Jesus
authors.initials: MJ
authors.lastname: Barceló
authors.forename: E
authors.initials: E
authors.lastname: del Río
authors.forename: M
authors.initials: M
authors.lastname: Baiget
authors.forename: E F
authors.initials: EF
authors.lastname: Tizzano
mesh_terms: D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D017362:Cyclic AMP Response Element-Binding Protein; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D017353:Gene Deletion; D005838:Genotype; D006801:Humans; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D017434:Protein Structure, Tertiary / Q000235:genetics; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins; D013030:Spain; D014897:Spinal Muscular Atrophies of Childhood / Q000235:genetics*; D055533:Survival of Motor Neuron 1 Protein
chemical_list: D017362:Cyclic AMP Response Element-Binding Protein; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins; C526471:SMN1 protein, human; D055533:Survival of Motor Neuron 1 Protein