From: Molecular Genetics of Autosomal Recessive Spinal Muscular Atrophy
SMN Gene | NAIP Gene |
---|---|
Disrupted or deleted in the majority of patients with SMA | Deletions only detected in a proportion of patients |
No correlation of mutation with disease severity | More severe patients are more likely to be deleted |
Rare isolated cases of deletions in phenotypically normal carriers | Deletions in carriers detected at a low rate in all populations |
No homology to known genes | Homology to genes known to be involved in inhibition of apoptosis in other species |