The first homoplasmic mutation, A1555G in mitochondrial 12S rRNA was identified in Arab-Israeli family with NSHI with matrilineal mode of inheritance (79).
However, they reported a candidate locus for a nuclear modifier gene associated with the mtDNA A1555G mutation in a same family using nonparametric analysis.
Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment with aminoglycosides.
Prevalence of the mitochondrial DNA A1555G mutation in sensorineural deafness patients in island southeast Asia.
Frequency of mtDNA A1555G and A7445G mutations among children with prelingual deafness in Turkey.
(92.) Kupka S, Toth T, Wrobel M, Zeissler U, Szyfter W, Szyfter K, et al Mutation A1555G in the 12S rRNA gene and its epidemiological importance in German, Hungarian and Polish patients.
The A1555G mtDNA mutation in Danish hearingimpaired patients: frequency and clinical signs.
Very low penetrance of hearing loss in seven Han Chinese pedigrees carrying the deafness-associated 12S rRNA A1555G mutation.
Extremely low penetrance of hearing loss in four Chinese families with the mitochondrial 12S rRNA A1555G mutation.