Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis.

ABSTRACT:

Background

Corneal intraepithelial dyskeratosis is an extremely rare condition. The classical form, affecting Native American Haliwa-Saponi tribe members, is called hereditary benign intraepithelial dyskeratosis (HBID). Herein, we present a new form of corneal intraepithelial dyskeratosis for which we identified the causative gene by using deep sequencing technology.

Methods and results

A seven member Caucasian French family with two corneal intraepithelial dyskeratosis affected individuals (6-year-old proband and his mother) was ascertained. The proband presented with bilateral complete corneal opacification and dyskeratosis. Palmoplantar hyperkeratosis and laryngeal dyskeratosis were associated with the phenotype. Histopathology studies of cornea and vocal cord biopsies sh

SUBMITTER: Soler VJ 

PROVIDER: S-EPMC4115150 | biostudies-literature | 2013 Apr

REPOSITORIES: biostudies-literature