mutations

Rare sequence variant mutations are cause of 6 SMA cases

Six unusual cases of children with spinal muscular atrophy (SMA) caused by sequence variants, rather than the more common genetic deletion, were described in a recent report. SMA is caused by mutations in the SMN1 gene. Everyone inherits two copies of the gene, one from each parent.

Scientists create SMN super minigene as tool for studying SMA

A team of scientists in Iowa have created a super minigene  — a small gene fragment used as a tool to study genetic manipulation — that recapitulates essential features of the natural SMN1 and SMN2 genes linked to spinal muscular atrophy (SMA) and its severity. One of the most…