Exome sequencing and RNA analysis identify two novel CPLANE1 variants causing Joubert syndrome.

ABSTRACT:

Background

Joubert syndrome (JS) is a genetically heterogeneous disorder; its genetic etiology involves more than 35 genes, and a limited number of studies have investigated the pathogenic mechanism of variants in patients with JS. RNA splicing analysis is critical to determine the functional significance for noncanonical splicing variants.

Methods

Whole exome sequencing was performed to screen the causative gene variants in a JS family. Sanger sequencing was used to verify the variants. cDNA PCR products were analyzed and functional experiments were performed to determine the pathogenicity of the variants.

Results

The clinical phenotypes and CPLANE1 variants in the JS patient were analyzed and proved consistent. We identified two novel heterozygous variants of CPLANE

SUBMITTER: Fei H 

PROVIDER: S-EPMC8922956 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature