title: Characterisation of novel point mutations in the survival motor neuron gene SMN, in three patients with SMA.
abstract: We report two novel mutations in three cases of spinal muscular atrophy (SMA), including two distant cousins who followed an unexpectedly severe course. Diagnosis was confirmed by reduced SMN protein and full-length SMN mRNA levels. Sequencing of the non-deleted SMN1 gene revealed a single G insertion at the end of exon 1 in the two cousins and a novel G275S exon 6 missense mutation in the milder case.
authors.affiliation: Dubowitz Neuromuscular Centre, Department of Paediatrics, Imperial College School of Medicine, Hammersmith Hospital, London, UK.
authors.forename: L A
authors.initials: LA
authors.lastname: Skordis
authors.forename: M G
authors.initials: MG
authors.lastname: Dunckley
authors.forename: L
authors.initials: L
authors.lastname: Burglen
authors.forename: L
authors.initials: L
authors.lastname: Campbell
authors.forename: K
authors.initials: K
authors.lastname: Talbot
authors.forename: S
authors.initials: S
authors.lastname: Patel
authors.forename: J
authors.initials: J
authors.lastname: Melki
authors.forename: K E
authors.initials: KE
authors.lastname: Davies
authors.forename: V
authors.initials: V
authors.lastname: Dubowitz
authors.forename: F
authors.initials: F
authors.lastname: Muntoni
mesh_terms: D002648:Child; D002675:Child, Preschool; D017362:Cyclic AMP Response Element-Binding Protein; D006801:Humans; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D017354:Point Mutation; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins; 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