Mutations in the two ribosomal RNA genes in mitochondrial DNA among Finnish children with hearing impairment.

ABSTRACT:

Background

Mutations in the two MT-RNR genes in mitochondrial DNA can cause hearing impairment that presents with variable severity and age of onset. In order to study the prevalence of mutations in MT-RNR1 and MT-RNR2 genes among Finnish children, we studied a ten-year cohort of hearing impaired children born in Northern Finland.

Methods

We studied children, who had been born in Northern Finland in 1993-2002 and who had been ascertained to have hearing impairment by 31 December 2007. Samples from 103 children were sequenced in order to find mutations in the MT-RNR1 and MT-RNR2 genes.

Results

One child harboured the pathogenic m.1555A > G mutation in MT-RNR1 suggesting a frequency of 4.4/100,000 in the Finnish paediatric population. In addition, eight rare variants an

SUBMITTER: Hakli S 

PROVIDER: S-EPMC4410458 | biostudies-literature | 2015 Feb

REPOSITORIES: biostudies-literature