Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination.

ABSTRACT:

Background and purpose

Hypomyelinating leukodystrophies are a heterogeneous group of genetic disorders with a wide spectrum of phenotypes and a high rate of genetically unsolved cases. Bi-allelic mutations in NKX6-2 were recently linked to spastic ataxia 8 with hypomyelinating leukodystrophy.

Methods

Using a combination of homozygosity mapping, exome sequencing, and detailed clinical and neuroimaging assessment a series of new NKX6-2 mutations in a multicentre setting is described. Then, all reported NKX6-2 mutations and those identified in this study were combined and an in-depth analysis of NKX6-2-related disease spectrum was provided.

Results

Eleven new cases from eight families of different ethnic backgrounds carrying compound heterozygous and homozygous pathogeni

SUBMITTER: Chelban V 

PROVIDER: S-EPMC6946857 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature