Re‐analysis of an original <scp><i>CMTX3</i></scp> family using exome sequencing identifies a known <scp><i>BSCL2</i></scp> mutation

Abstract

No pathogenic coding variants localizing to the CMTX3 region were identified. However, exome sequencing identified a known BSCL2 mutation (N88S). This study demonstrates the power of exome sequencing as a tool to identify gene mutations for a small family in the absence of statistically significant linkage data.