Aberrant Splicing Events Associated to CDH23 Noncanonical Splice Site Mutations in a Proband with Atypical Usher Syndrome 1.

ABSTRACT: The aim of this study was the genetic diagnosis by next generation sequencing (NGS) of a patient diagnosed with Usher syndrome type 2 and the functional evaluation of the identified genetic variants to establish a phenotype-genotype correlation. Whole exome sequencing (WES) analysis identified two heterozygous intronic variants in CDH23, a gene responsible of Usher syndrome type 1. Evaluation of the putative splicing effects was performed in vivo, in whole blood samples, and in vitro, by transfection of midigene constructs in HEK293T cells. Two intronic variants were identified in intron 45 of CDH23-one novel, c.6050-15G>A, and the other, c.6050-9G>A, already reported as a noncanonical splice site (NCSS) mutation-with partial functional characterization. In vivo and in vitro analyses showe

SUBMITTER: Valero R 

PROVIDER: S-EPMC6826400 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature