Audiologic Features of Hearing Loss Due to the 1,555 Mutation of Mitochondrial DNA

Autor: Tsuiki, Takashi, Murai, Kazuo, Kitamura, Ken, Murai, Seiko, Tamagawa, Yuya
Zdroj: Annals of Otology, Rhinology & Laryngology; August 1997, Vol. 106 Issue: 8 p643-648, 6p
Abstrakt: We proved a 1,555 mutation of mitochondrial DNA in one member of each of three families with familial streptomycin hearing loss, and report the pedigrees and audiologic features. DNA was extracted by the standard method. The 1,555 A to G mutation was identified in all three patients and confirmed by direct sequencing of the polymerase chain reaction products by a cycle sequencing method. On audiograms, the hearing loss was sensorineural, bilateral, and symmetric, showing a high-tone loss or a profound loss particularly in the high-tone range, and the “symmetry law” of Langenbeck was applicable. The superimposed audiograms of members of one family did not cross themselves, proving the applicability of the “never-cross principle of audiograms.”
Databáze: Supplemental Index