A novel pathogenic variant in OSBPL2 linked to hereditary late-onset deafness in a Mongolian family.

ABSTRACT:

Background

To investigate the clinical features and the underlying causal gene of a family with hereditary late-onset deafness in Inner Mongolia of China, and to provide evidence for the early genetic screening and diagnosis of this disease.

Methods

Family data were collected to draw a pedigree. Audiological testing and physical examination of the family members were conducted following questionnaire. Genomic DNA was extracted from peripheral blood of 5 family members (3 patients and 2 normal control) and subjected to whole genome sequencing for identifying deafness casual genes. The pathogenic variant in the deafness gene was further confirmed by Sanger sequencing.

Results

The family is composed of a total of 6 generations, with 53 traceable individuals. In this fami

SUBMITTER: Wu N 

PROVIDER: S-EPMC6425609 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature