Retrotransposon insertion as a novel mutational event in Bardet-Biedl syndrome.

ABSTRACT:

Background

Bardet-Biedl syndrome (BBS) is an autosomal recessive pleiotropic disorder of the primary cilia that leads to severe visual loss in the teenage years. Approximately 80% of BBS cases are explained by mutations in one of the 21 identified genes. Documented causative mutation types include missense, nonsense, copy number variation (CNV), frameshift deletions or insertions, and splicing variants.

Methods

Whole genome sequencing was performed on a patient affected with BBS for whom no mutations were identified using clinically approved genetic testing of the known genes. Analysis of the WGS was done using internal protocols and publicly available algorithms. The phenotype was defined by retrospective chart review.

Results

We document a female affected with BBS c

SUBMITTER: Tavares E 

PROVIDER: S-EPMC6393654 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature