Unique penetrance of hearing loss in a five-generation Chinese family with the mitochondrial 12S rRNA 1555A > G mutation.

Abstract:

CONCLUSIONS:Analysis of the complete mtDNA genome and X-linkage of this five-generation Chinese family revealed that the 1555A > G mutation may lead to deafness. OBJECTIVES:Mutations in mitochondrial DNA (mtDNA) have been found to be associated with sensorineural hearing loss. However, the variable clinical phenotype and incomplete penetrance of mtDNA 1555A > G-induced hearing loss complicate our understanding of this mutation. We aimed to identify whether nuclear genes, mitochondrial haplotypes/variants, and a possible threshold effect are involved in its manifestation in the pedigree. METHODS:We performed clinical, genetic, and X-linkage analysis of a five-generation Chinese family in which all the affected individuals were male. RESULTS:Clinical evaluation revealed that affected individuals with or without aminoglycoside exposure developed hearing loss extending gradually from 8000 Hz to 4000 Hz and then to 1000 Hz. Using X-linkage analysis and sequencing, we detected an identical homoplasmic 1555A > G mutation in nine individuals, and a previously unreported variant 14163C > T in mtDNA. The new variant 14163C > T coexisted with the 1555A > G mutation in six affected subjects of our pedigree. The previously unreported variant 14163C > T and aminoglycoside exposure may synergize the development of this deafness.

journal_name

Acta Otolaryngol

journal_title

Acta oto-laryngologica

authors

Men M,Jiang L,Wang H,Liu Y,Hu Z,He C,Feng Y

doi

10.3109/00016489.2011.575794

subject

Has Abstract

pub_date

2011-09-01 00:00:00

pages

970-5

issue

9

eissn

0001-6489

issn

1651-2251

journal_volume

131

pub_type

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