SET binding factor 1 ( <i>SBF1</i> ) mutation causes Charcot-Marie-Tooth disease type 4B3

Abstract

We suggest that the compound heterozygous mutations in SBF1 are the underlying causes of a novel CMT4B subtype, designated as CMT4B3. We believe that this study will lead to mechanistic studies to discover the function of SBF1 and to the development of molecular diagnostics for CMT disease.