PPIP5K2 and PCSK1 are Candidate Genetic Contributors to Familial Keratoconus.

ABSTRACT: Keratoconus (KC) is the most common corneal ectatic disorder affecting >300,000 people in the US. KC normally has its onset in adolescence, progressively worsening through the third to fourth decades of life. KC patients report significant impaired vision-related quality of life. Genetic factors play an important role in KC pathogenesis. To identify novel genes in familial KC patients, we performed whole exome and genome sequencing in a four-generation family. We identified potential variants in the PPIP5K2 and PCSK1 genes. Using in vitro cellular model and in vivo gene-trap mouse model, we found critical evidence to support the role of PPIP5K2 in normal corneal function and KC pathogenesis. The gene-trap mouse showed irregular corneal surfaces and pathological corneal thinning resembling

SUBMITTER: Khaled ML 

PROVIDER: S-EPMC6920454 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature