A novel PIK3CD C896T mutation detected in bilateral sudden sensorineural hearing loss using next generation sequencing: An indication of primary immunodeficiency.

ABSTRACT:

Objective

To investigate immune-related genetic background in bilateral sudden sensorineural hearing loss (SSNHL).

Case report and methods

The case is a 45-year-old man presenting with a 7-year history of bilateral profound SSNHL. Blood biochemical testing demonstrated increased levels of total cholesterol (5.88 mmol/L). Tests for hepatitis B showed a positive antibody against the hepatitis B core antigen. Complement C3 was below the normal value, and complement C4 and IgG were in the lower range of normal values. CT images showed a normal inner ear and vestibular aqueduct but round window membranous ossification on both sides. A total number of 232 immune-associated genes were sequenced using the next generation sequencing technique.

Results

Mutations were detected i

SUBMITTER: Zou J 

PROVIDER: S-EPMC6002587 | biostudies-literature | 2016 Jun

REPOSITORIES: biostudies-literature