title: Novel mutations in ATP6V0A4 are associated with atypical progressive sensorineural hearing loss in a Chinese patient with distal renal tubular acidosis.
abstract: Mutations in ATP6V0A4 lead to distal renal acidosis (MIM 602722) with a highly variable range of hearing phenotype. We identified two novel ATP6V0A4 mutations in a Chinese patient with distal renal tubular acidosis and late onset hearing loss, and presented the first direct evidence of progressive hearing loss associated with ATP6V0A4 mutations by sequential audiological assessments. A unique audiometric profile of progressive hearing loss of the patient was described that may provide useful insights when studying the highly variable hearing phenotypes associated with the ATP6V0A4 mutations.
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
authors.forename: Xiaohua
authors.initials: X
authors.lastname: Li
authors.forename: Yongchuan
authors.initials: Y
authors.lastname: Chai
authors.forename: Zheng
authors.initials: Z
authors.lastname: Tao
authors.forename: Lei
authors.initials: L
authors.lastname: Li
authors.forename: Zhiwu
authors.initials: Z
authors.lastname: Huang
authors.forename: Yun
authors.initials: Y
authors.lastname: Li
authors.forename: Hao
authors.initials: H
authors.lastname: Wu
authors.forename: Tao
authors.initials: T
authors.lastname: Yang
mesh_terms: D000141:Acidosis, Renal Tubular / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D000328:Adult; D044466:Asian People / Q000235:genetics; D001299:Audiometry; D018450:Disease Progression; D005500:Follow-Up Studies; D005808:Genes, Recessive / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006319:Hearing Loss, Sensorineural / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D010641:Phenotype; D012720:Severity of Illness Index; D025262:Vacuolar Proton-Translocating ATPases / Q000235:genetics*
chemical_list: D025262:Vacuolar Proton-Translocating ATPases