The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.

ABSTRACT:

Purpose

Charcot-Marie-Tooth (CMT) disease is a heterogeneous group of genetic disorders of the peripheral nervous system. Copy-number variants (CNVs) contribute significantly to CMT, as duplication of PMP22 underlies the majority of CMT1 cases. We hypothesized that CNVs and/or single-nucleotide variants (SNVs) might exist in patients with CMT with an unknown molecular genetic etiology.

Methods

Two hundred patients with CMT, negative for both SNV mutations in several CMT genes and for CNVs involving PMP22, were screened for CNVs by high-resolution oligonucleotide array comparative genomic hybridization. Whole-exome sequencing was conducted on individuals with rare, potentially pathogenic CNVs.

Results

Putatively causative CNVs were identified in five subjects (~2.5%);

SUBMITTER: Pehlivan D 

PROVIDER: S-EPMC5322766 | biostudies-literature | 2016 May

REPOSITORIES: biostudies-literature