Tamagawa Y, Kitamura K, Ishida T, Hagiwara H, Abe K, Nishizawa M
Department of Otolaryngology, Jichi Medical School, Tochigi, Japan.
Acta Otolaryngol. 1996 Nov;116(6):796-8. doi: 10.3109/00016489609137928.
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.
核糖体RNA基因中核苷酸1555处的线粒体DNA突变最近被报道为母系遗传的非综合征性感音神经性耳聋的一个病因。我们推测1555突变也与散发性非综合征性耳聋有关，并对7例随机选择的病因不明的双侧感音神经性听力损失的散发病例进行了该突变的筛查。在一名患者中发现了该突变，她在十几岁时首次注意到听力损失，随后逐渐加重。结果表明，1555突变在某些情况下可能是特发性双侧感音神经性听力损失病因的一部分。
