title: [Cinical and genetic characteristics of familial Meniere's disease: three families report].
abstract: OBJECTIVE
  To investigate the clinical and genetic characteristics of three Chinese Meniere's disease (MD) families and decipher the mechanism of MD further.
  
  
  METHODS
  Personal and family medical evidence of hearing loss, vestibular symptoms, and other clinical abnormalities of the participants were identified, clinical and genetic features were analyzed. Targeted 307 genes capture and high-throughput sequencing were performed on the two ascertained members of family 1007184.
  
  
  RESULTS
  Eight patients from these three families showed post-lingual sensorineural hearing loss, six women and two men were involved. Age of onset in these affected members concentrated in the middle age, with the average age of 39.3 years old. Among them, patients from 1407278 were accompanied by migraine. All of the three probands presented as recurrent vertigo firstly, and then fluctuated hearing loss showed up, accompanying by tinnitus and ear fullness feeling. The hearing loss manifested as late-onset, low frequency-involved pattern, with subsequent gradual progression from moderate to severe level. Some of the patients progressed to severe level involving all frequencies at higher ages. In addition, most of the cases showed revitalization. Four cases received vestibular function tests, three of which had varying dysfunction of vestibular function, while the other one had normal vestibular function. Patients who had abnormal vestibular function showed much more severe hearing impairment. The three-generation family 1007193 had an autosomal recessive genetic characteristics, family 1007184 showed autosomal dominant inheritance of characteristics, family 1407278 were either autosomal dominant or X-linked dominant pattern. Through target genes capture high-throughput sequencing technology, we identified two candidate variants in the two members of family 1007184, named c. 2057G>A in EGFLAM and c. 1961C>T in ITGA8.
  
  
  CONCLUSIONS
  Meniere's disease has some genetic and familial aggregation in Chinese population, but its complex genetic pathogenic mechanisms need further study.
authors.affiliation: Department of Otorhinolaryngology Head and Neck Surgery, Institute of Otorhinolaryngology, Chinese People's Liberation Army General Hospital, Beijing 100853, China.
authors.forename: Yun
authors.initials: Y
authors.lastname: Gao
authors.forename: Dayong
authors.initials: D
authors.lastname: Wang
authors.forename: Hongyang
authors.initials: H
authors.lastname: Wang
authors.forename: Jing
authors.initials: J
authors.lastname: Guan
authors.forename: Lan
authors.initials: L
authors.lastname: Lan
authors.forename: Ziming
authors.initials: Z
authors.lastname: Wu
authors.forename: Linyi
authors.initials: L
authors.lastname: Xie
authors.forename: Lan
authors.initials: L
authors.lastname: Yu
authors.forename: Suzhen
authors.initials: S
authors.lastname: Zhang
authors.affiliation: Email: sxzent@163.com, Department of Otorhinolaryngology Head and Neck Surgery, General Hospital of Chinese People's Armed Police Forces, Beijing 100039, China.
authors.forename: Xizheng
authors.initials: X
authors.lastname: Shan
authors.affiliation: Email: wqcr@263.net.
authors.forename: Qiuju
authors.initials: Q
authors.lastname: Wang
mesh_terms: D000328:Adult; D003638:Deafness; D005192:Family Health; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000209:etiology / Q000503:physiopathology*; D006801:Humans; D040582:Inheritance Patterns; D008297:Male; D008575:Meniere Disease / Q000150:complications / Q000235:genetics / Q000503:physiopathology*; D008875:Middle Aged; D008881:Migraine Disorders / Q000209:etiology; D014012:Tinnitus / Q000209:etiology; D014724:Vestibular Function Tests; D014722:Vestibule, Labyrinth / Q000503:physiopathology