Confirming and expanding the phenotypes of FZD5 variants: Coloboma, inferior chorioretinal hypoplasia, and high myopia.

ABSTRACT:

Purpose

Two frameshift and two indel variants in FZD5 have been reported to cause coloboma in two families with incomplete penetrance and in two isolated cases in previous studies, respectively. This study aims to confirm this association and expand related specific phenotypes based on the genotype-phenotype analysis of FZD5 variants.

Methods

Variants in FZD5 were collected from our in-house exome sequencing data of 5,845 probands with different eye conditions. Multistep bioinformatics analysis was used to classify the variants. Potential pathogenic variants and phenotypic variations were further evaluated based on family segregation and genotype-phenotype analysis.

Results

In total, 63 rare variants were detected in FZD5. Multistep bioinfo

SUBMITTER: Jiang Y 

PROVIDER: S-EPMC7883931 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature