Mitochondrial DNA mutation at nucleotide 1555 in a patient with bilateral sensorineural hearing loss of unknown etiology.
A mitochondrial DNA mutation at nucleotide 1555 in the ribosomal RNA gene was recently reported as a cause of maternally inherited non-syndromic sensorineural deafness. We assumed that the 1555 mutation is also associated with sporadic non-syndromic deafness and screened for the mutation in seven randomly selected sporadic cases with bilateral sensorineural hearing loss of unknown etiology. The mutation was found in one patient, who first noticed hearing loss when she was in her early teens with subsequent gradual progression. The results suggest that the 1555 mutation may contribute to the etiology of idiopathic bilateral sensorineural hearing loss in some cases.
Tamagawa
Y
Y
Department of Otolaryngology, Jichi Medical School, Tochigi, Japan.
Kitamura
K
K
Ishida
T
T
Hagiwara
H
H
Abe
K
K
Nishizawa
M
M
D000328:Adult; D000368:Aged; D000617:Aminoglycosides / Q000009:adverse effects; D001301:Audiometry, Pure-Tone; D004272:DNA, Mitochondrial; D004587:Electrophoresis, Agar Gel; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008875:Middle Aged; D008969:Molecular Sequence Data; D009712:Nucleotides, Cyclic / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012335:RNA, Ribosomal / Q000235:genetics; D012022:Reflex, Acoustic
D000617:Aminoglycosides; D004272:DNA, Mitochondrial; D009712:Nucleotides, Cyclic; D012335:RNA, Ribosomal