Homozygous exon 7 deletion of the SMN centromeric gene (SMN2): a potential susceptibility factor for adult-onset lower motor neuron disease.
Mutations in the telomeric copy of the SMN gene (SMN1) are responsible for almost all infantile motor neuron disease (MND). In contrast, the role of the centromeric copy of the SMN gene (SMN2) in MND remains unclear. We searched for deletions of SMN1 and SMN2 in a group of 11 patients with sporadic adult-onset lower motor neuron disease (also referred to as "progressive muscular atrophy") and found an excess of patients carrying homozygous deletions of SMN2 exon 7 (36% versus 5% in the normal population). This result suggests that SMN2 deletions could act as a susceptibility factor for sporadic lower motor neuron disease in adults.
Echaniz-Laguna
Andoni
A
Service des Maladies du Système Nerveux et du Muscle, Clinique Neurologique, Hĵpital Civil de Strasbourg, France. Echaniz-Laguna@medecine.u-strasbg.fr
Guiraud-Chaumeil
Christophe
C
Tranchant
Christine
C
Reeber
André
A
Melki
Judith
J
Warter
Jean-Marie
JM
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D017362:Cyclic AMP Response Element-Binding Protein; D005091:Exons / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008297:Male; D008875:Middle Aged; D016472:Motor Neuron Disease / Q000235:genetics* / Q000503:physiopathology; D009134:Muscular Atrophy, Spinal / Q000235:genetics / Q000503:physiopathology; D009419:Nerve Tissue Proteins / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins; D012744:Sex Ratio; D055533:Survival of Motor Neuron 1 Protein; D055540:Survival of Motor Neuron 2 Protein
D017362:Cyclic AMP Response Element-Binding Protein; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins; C526471:SMN1 protein, human; C526477:SMN2 protein, human; D055533:Survival of Motor Neuron 1 Protein; D055540:Survival of Motor Neuron 2 Protein