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Of these, nine matrilineal relatives, who had a history of exposure to aminoglycosides, exhibited variable severity and audiometric configuration of hearing loss. The dose and age at the time of drug administration seemed to be correlated with the severity of the hearing loss experienced by affected individuals. Sequence analysis of the complete mitochondrial genome in the pedigree showed the presence of homoplasmic A1555G mutation and 37 variants belonging to haplogroup D4a. Of those variants, the G7444A mutation is of special interest as the mutation at this position results in a read\u2010through of the stop condon AGA of the COI message, thereby adding three amino acids (Lys\u2013Gln\u2013Lys) to the C\u2010terminal of the polypeptide. Alternatively, the G7444A mutation is adjacent to the site of 3\u2032 end endonucleolytic processing of L\u2010strand RNA precursor, spanning tRNA<jats:sup>Ser(UCN)<\/jats:sup> and ND6 mRNA. Thus, the G7444A mutation, similar to the deafness\u2010associated A7445G mutation, may lead to a defect in the processing of the L\u2010strand RNA precursor, thus influencing the phenotypic expression of the A1555G mutation. These data also imply that nuclear background plays a role in the aminoglycoside ototoxicity associated with the A1555G mutation in this Chinese pedigree. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30952","type":"journal-article","created":{"date-parts":[[2005,9,8]],"date-time":"2005-09-08T21:46:51Z","timestamp":1126216011000},"page":"133-140","source":"Crossref","is-referenced-by-count":77,"title":["Cosegregation of the G7444A mutation in the mitochondrial COI\/tRNA<sup>Ser(UCN)<\/sup> genes with the 12S rRNA A1555G mutation in a Chinese family with aminoglycoside\u2010induced and nonsyndromic hearing 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