Two novel missense substitutions in the VSX1 gene: clinical and genetic analysis of families with Keratoconus from India.

ABSTRACT:

Background

Visual system homeobox gene (VSX1) plays a major role in the early development of craniofacial and ocular tissues including cone opsin gene in the human retina. To date, few disease-causing mutations of VSX1 have been linked to familial and sporadic keratoconus (KC) in humans. In this study, we describe the clinical features and screening for VSX1 gene in families with KC from India.

Methods

Clinical data and genomic DNA were collected from patients with clinically diagnosed KC and their family members. The study was conducted on 20 subjects of eight families from India. The coding exons of VSX1 gene were amplified using PCR and amplicons were analyzed by direct sequencing. Predictive effect of the mutations was performed using Polyphen-2, SIFT and mutation assess

SUBMITTER: Shetty R 

PROVIDER: S-EPMC4630895 | biostudies-literature | 2015 May

REPOSITORIES: biostudies-literature