Hearing Loss and Mitochondrial DNA Mutations: Clinical Implications and Biological Lessons - Genetics of Auditory Disorders - page 230

TABLE 7.1. Mitochondrial mutations and hearing impairment
Hearing impairment Mutations identified Inherited Acquired Homoplasmy Heteroplasmy

Syndromic
Syst. neuromuscular del, A3243G,... Rare Usually No Yes

Diabetes + Deafness A3243G-tRNAleu(UUR) Yes Possible No Yes

Large deletion/rearrangement Yes Not observed No Yes

A8296G-tRNAlys Yes Not known No Yes

T14709C in the tRNAglu Yes Not observed No Yes

PPK + Deafness A7445G-non-coding Yes Not observed Yes Minimal

Nonsyndromic A1555G-12S rRNA Yes Not observed Yes Minimal

A7445G-non-coding Yes Not observed Yes Minimal

Cins7472-tRNAser(UCN) Yes Not observed Nearly Yes

T7511C-tRNAser(UCN) Yes Not observed Nearly Yes

Ototoxic A1555G-12S rRNA Yes Not observed Yes No

DT961Cn Yes Possible Yes “Multiplasmy”

Presbycusis “Random” Not known Yes No Yes