Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D.

ABSTRACT:

Purpose

Copy-number variations as a mutational mechanism contribute significantly to human disease. Approximately one-half of the patients with Charcot-Marie-Tooth (CMT) disease have a 1.4 Mb duplication copy-number variation as the cause of their neuropathy. However, non-CMT1A neuropathy patients rarely have causative copy-number variations, and to date, autosomal-recessive disease has not been associated with copy-number variation as a mutational mechanism.

Methods

We performed Agilent 8 × 60 K array comparative genomic hybridization on DNA from 12 recessive Turkish families with CMT disease. Additional molecular studies were conducted to detect breakpoint junctions and to evaluate gene expression levels in a family in which we detected an intragenic duplication copy-numbe

SUBMITTER: Okamoto Y 

PROVIDER: S-EPMC4224029 | biostudies-literature | 2014 May

REPOSITORIES: biostudies-literature