TSC1 Mutations in Keratoconus Patients With or Without Tuberous Sclerosis.

ABSTRACT:

Purpose

To test candidate genes TSC1 and TSC2 in a family affected by tuberous sclerosis complex (TSC) where proband was also diagnosed with bilateral keratoconus (KC) and to test the hypothesis that defects in the same gene may lead to a nonsyndromic KC.

Methods

Next-generation sequencing of TSC1 and TSC2 genes was performed in a proband affected by TSC and KC. Identified mutation was confirmed by Sanger DNA sequencing. Whole exome sequencing (WES) was performed in patients with nonsyndromic KC. Sanger DNA sequencing was used to confirm WES results and to screen additional patients. RT-PCR was used to investigate TSC1 expression in seven normal human corneas and eight corneas from patients with KC. Various in silico tools were employed to model functional consequences of id

SUBMITTER: Bykhovskaya Y 

PROVIDER: S-EPMC5760196 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature