Non-Penetrance for Ocular Phenotype in Two Individuals Carrying Heterozygous Loss-of-Function <i>ZEB1</i> Alleles.

ABSTRACT: ZEB1 loss-of-function (LoF) alleles are known to cause a rare autosomal dominant disorder-posterior polymorphous corneal dystrophy type 3 (PPCD3). To date, 50 pathogenic LoF variants have been identified as disease-causing and familial studies have indicated that the PPCD3 phenotype is penetrant in approximately 95% of carriers. In this study, we interrogated in-house exomes (n = 3616) and genomes (n = 88) for the presence of putative heterozygous LoF variants in ZEB1. Next, we performed detailed phenotyping in a father and his son who carried a novel LoF c.1279C>T; p.(Glu427*) variant in ZEB1 (NM_030751.6) absent from the gnomAD v.2.1.1 dataset. Ocular examination of the two subjects did not show any abnormalities characteristic of PPCD3. GnomAD (n

SUBMITTER: Dudakova L 

PROVIDER: S-EPMC8146820 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature