Genetic background of ataxia in children younger than 5 years in Finland.

ABSTRACT:

Objective

To characterize the genetic background of molecularly undefined childhood-onset ataxias in Finland.

Methods

This study examined a cohort of patients from 50 families with onset of an ataxia syndrome before the age of 5 years collected from a single tertiary center, drawing on the advantages offered by next generation sequencing. A genome-wide genotyping array (Illumina Infinium Global Screening Array MD-24 v.2.0) was used to search for copy number variation undetectable by exome sequencing.

Results

Exome sequencing led to a molecular diagnosis for 20 probands (40%). In the 23 patients examined with a genome-wide genotyping array, 2 additional diagnoses were made. A considerable proportion of probands with a molecular diagnosis had de novo pathogenic variants

SUBMITTER: Ignatius E 

PROVIDER: S-EPMC7323479 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature