Exome Sequencing Reveals a Novel<i>PRPS1</i>Mutation in a Family with CMTX5 without Optic Atrophy

Abstract

A novel mutation of PRPS1 was identified in a CMTX5 family in which the proband had a phenotype of peripheral neuropathy with early-onset hearing loss, but no optic atrophy. The findings of this study will expand the clinical spectrum of X-linked recessive CMT and will be useful for the molecular diagnosis of clinically heterogeneous peripheral neuropathies.