Identification of ANLN as a new likely pathogenic gene of branchio-otic syndrome in a three-generation Chinese family.

ABSTRACT:

Background

Branchio-oto-renal (BOR) syndrome is one of the most common autosomal dominant hearing loss syndromes and features clinical and genetic heterogeneity. When there is no renal deformity, this disease can also be called branchio-otic (BO) syndrome. Though many genes have been reported, there are still many BO syndrome-related genes to be identified. To identify a hitherto unknown candidate gene causing BO syndrome in a three-generation Chinese family, clinical, genetic, and functional analyses were employed.

Methods

Whole-exome sequencing (WES) was conducted in three affected family members and two unaffected family members. PCR-Sanger sequencing was performed in all of the family members for segregation analysis and verification of the candidate variants. PCR-Sanger

SUBMITTER: Deng L 

PROVIDER: S-EPMC6393648 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature