Sensorineural hearing loss caused by MYH14 gene mutation. A case report

被引:0
作者
Carneiro-Sousa, Pedro [1 ]
Gamboa, Ines [1 ]
Duarte, Delfim [1 ]
Trigueiros-Cunha, Nuno [1 ]
机构
[1] Hosp Pedro Hispano, Unidade Local Saude Matosinhos, Serv Otorrinolaringol, Matosinhos, Portugal
来源
REVISTA ORL | 2018年 / 9卷 / 01期
关键词
sensorineural hearing loss; MYH14; gene; myosin; genetics; mutation;
D O I
10.14201/orl.16651
中图分类号
R76 [耳鼻咽喉科学];
学科分类号
100213 ;
摘要
Introduction and objective: Hereditary causes are responsible for half of cases of sensorineural hearing loss in young people Mutation of the MYH14 gene is autosomal dominant. Description: A 33 years-old male patient with moderate to severe bilateral sensorineural hearing loss. Genetic study revealed MYH14 gene mutation. Discussion: This is a case of post-lingual sensorineural deafness, compatible with autosomal dominant inheritance. MYH14 mutation seems to increase susceptibility to acoustic trauma, which may justify the late onset of hearing loss. Conclusions: MYH14 mutation is, probably, a cause for hearing loss. Genetic study has, therefore, a growing importance.
引用
收藏
页码:81 / 83
页数:3
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