Systematic Review of Genotype-Phenotype Correlations in Frasier Syndrome.

ABSTRACT:

Introduction

Frasier syndrome (FS) is a rare inherited kidney disease caused by intron 9 splicing variants of WT1. For wild-type WT1, 2 active splice donor sites in intron 9 cause a mixture of 2 essential transcripts (with or without lysine-threonine-serine [+/KTS or -KTS]), and imbalance of the +KTS/-KTS ratio results in the development of FS. To date, 6 causative intron 9 variants have been identified; however, detailed transcript analysis has not yet been conducted and the genotype-phenotype correlation also remains to be elucidated.

Methods

We conducted an in vitro minigene splicing assay for 6 reported causative variants and in vivo RNA sequencing to determine the +KTS/-KTS ratio using patients' samples. We also performed a systematic review

SUBMITTER: Tsuji Y 

PROVIDER: S-EPMC8484119 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature