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Table 2 Clinical features of previously reported pedigrees with the m.7511T > C mutation

From: Mitochondrial mutations in maternally inherited hearing loss

Ethnicity Penetrance Severity Age of onset (years) Audiometric configuration Progression Homoplasmy/heteroplasmy Reference
African-American 36/43 (84%) Unknown Various Unknown Yes Homo, hetero [15]
French 7/19 (37%) Normal to profound 3 to 33 Unknown Yes/Noa Homo, hetero [14]
French 6/19 (32%) Normal to profound Various Sloping, U-shaped No Homo, hetero [14]
Japanese 13/24 (54%) Normal to profound 3 to 30 Sloping, dip, flat Yes/Noa High hetero [16]
Japanese 7/23 (30%) Normal to profound 26 to 45 Sloping Yes Homo [18]
Japanese 9/17 (53%) Normal to moderate 0 to 40s Sloping, flat, low-frequency Yes/Noa Homo This study
  1. Homo, homoplasmy; hetero, heteroplasmy
  2. aProgression was not always observed