Abstract:
CONCLUSIONS:We describe a Japanese family with high-frequency sensorineural hearing loss (SNHL) harboring a c.211delC mutation in the KCNQ4 gene. Families showing progressive high-frequency SNHL should be investigated for mutations in the KCNQ4 gene. OBJECTIVE:To determine the responsible deafness gene in a Japanese family with dominantly inherited high-frequency SNHL of unknown etiology. METHODS:We performed hearing tests for five members of the family, and the three affected with hearing loss underwent further audiological and vestibular examinations. Genetic analysis was performed to identify any possible causative mutations, as well as analysis of detailed clinical findings to determine the phenotype. RESULTS:The three affected subjects showed high-frequency SNHL. Extensive audiologic evaluation suggested cochlear involvement and progressive hearing loss. As for bilateral caloric testing, two of the three affected subjects showed hyporeflexia with recurrent vestibular symptoms. We identified the c.211delC mutation in the KCNQ4 gene and the c.2967C>A (p.H989Q) mutation in the TECTA gene. Based on the genotype-phenotype correlation, the c.211delC mutation in the KCNQ4 gene was associated with high-frequency SNHL in this family.
journal_name
Acta Otolaryngoljournal_title
Acta oto-laryngologicaauthors
Ishikawa K,Naito T,Nishio SY,Iwasa Y,Nakamura K,Usami S,Ichimura Kdoi
10.3109/00016489.2014.890740subject
Has Abstractpub_date
2014-06-01 00:00:00pages
557-63issue
6eissn
0001-6489issn
1651-2251journal_volume
134pub_type
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