MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs.

ABSTRACT:

Objective

To use linkage analysis and whole exome sequencing to identify the genetic mutation in a multigenerational Australian family with Charcot-Marie-Tooth disease type 2 (CMT2) and pyramidal signs.

Methods

Genome-wide linkage analysis was performed to map the locus. Whole exome sequencing was undertaken on selected individuals (3 affected, 1 normal), and segregation analysis and mutation screening were carried out using high-resolution melt analysis. The GEM.app database was queried to identify additional families with mutations.

Results

Significant linkage (2-point LOD score ≥ +3) and haplotype analysis mapped a new locus for CMT2 and pyramidal signs to a 6.6Mb interval on chromosome 22q12.1-q12.3. Whole exome sequencing identified a novel mutation (p.R252W) in

SUBMITTER: Albulym OM 

PROVIDER: S-EPMC4936275 | biostudies-literature | 2016 Mar

REPOSITORIES: biostudies-literature