Frequency of mitochondrial m.1555A > G mutation in Syrian patients with non-syndromic hearing impairment.

ABSTRACT:

Background

Mitochondrial maternally inherited hearing impairment (HI) appears to be increasing in frequency. The incidence of mitochondrial defects causing HI is estimated to be between 6 and 33% of all hearing deficiencies. Mitochondrial m.1555A > G mutation is the first mtDNA mutation associated with non-syndromic sensorineural deafness and also with aminoglycoside induced HI. Its prevalence varied geographically between different populations.

Methods

We carried out PCR, restriction enzyme based screening, and sequencing of 337 subjects (including 132 patients diagnosed clinically with hereditary deafness) from 54 families from Syria for m.1555A > G mitochondrial mutation.

Results

Mitochondrial m.1555A > G mutation was detected in one of fifty-four families (1.85%),

SUBMITTER: Kaheel H 

PROVIDER: S-EPMC5963064 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature