Maternally inherited non-syndromic hearing loss associated with mitochondrial 12S rRNA A827G mutation in a Chinese family

Newborn hearing screening and genetic testing in 8974 Brazilian neonates

“…Also, a Chinese family with non-syndromic hearing loss with a maternal inheritance pattern revealed in the molecular analysis the homoplasmic mtDNA mutation A827G in the MTRNR1 gene [17].…”

Mitochondrial rRNA and tRNA and hearing function

“…Clinical data indicated a strikingly similar phenotype of hearing loss in these families, being moderate to severe, bilateral, and sensorineural with flat configurations. In contrast with the congenital or early-onset hearing impairment in one family carrying the A827G mutation [40], three patients in another pedigree developed hearing loss only after administration of aminoglycosides [41]. The discrepancy likely reflects the difference of genetic backgrounds between two families.…”

“…More recently, two Chinese pedigrees with maternally inherited nonsyndromic hearing loss have been reported, and a homoplasmic A827G mutation in the 12S rRNA gene in matrilineal relatives has been shown [40,41]. Clinical data indicated a strikingly similar phenotype of hearing loss in these families, being moderate to severe, bilateral, and sensorineural with flat configurations.…”

“…Mutations in this gene cause aminoglycoside-induced and nonsyndromic SNHL, which may be due to the A1555G [23][24][25][26][27], C1494T [28], T1095C [34][35][36][37], A827G [40,41], and 961 mutations [30][31][32][33]. No deafness-associated mutations in the mitochondrial 16S rRNA gene have been detected.…”

“…By now, several mutations including A1555G [23][24][25][26][27], C1494T [28], T1095C [34][35][36][37], A827G [40,41], and 961 mutation [30][31][32][33] in the mitochondrial 12S rRNA gene have been found to be associated with nonsyndromic hearing loss. Surprisingly, all of these mutations are sensitive to aminoglycosides as indicated by extensive clinical observations and functional studies [5,41,68].…”