Pb. Cserhalmi-friedman et al., Restoration of open reading frame resulting from skipping of an exon with an internal deletion in the COL7A1 gene, LAB INV, 78(12), 1998, pp. 1483-1492
Restoration of open reading frame resulting from exon skipping has been doc
umented as a mechanism of rescuing an mRNA transcript containing mutations.
In this study, we describe a mutation in a family with dystrophic epidermo
lysis bullosa consisting of a 16-bp deletion within exon 87 of the type VII
collagen gene (COL7A1) and predicted to lead to a frameshift and downstrea
m premature termination codon. Unexpectedly, mRNA analysis revealed instead
that the intraexonic deletion led to skipping of exon 87 and subsequent re
storation of the open reading frame. The phenotypes and patterns of inherit
ance observed in this family arise from three different mutations, all of w
hich affect RNA processing. Restoration of open reading frame by exon skipp
ing represents a previously undescribed mechanism of action of intraexonic
deletion mutations.