Mutation spectrum of the Norrie disease pseudoglioma (NDP) gene in Indian patients with FEVR.

ABSTRACT:

Purpose

Mutations in the Norrie disease pseudoglioma (NDP; Xp11.3) gene have been involved in retinal blood vessel formation and neural differentiation and are implicated in familial exudative vitreoretinopathy (FEVR) cases. However, the role of the gene has not been explored in the Indian context. Thus, this study was designed to understand the involvement of NDP among Indian patients with FEVR.

Methods

The study cohort comprised 225 subjects, including unrelated patients with FEVR (n = 110) and ethnically matched healthy subjects (n = 115) recruited from a tertiary eye care center in India. The entire coding regions, intron-exon boundaries, along with the 5' and 3' untranslated regions of NDP were screened with resequencing following standard protocols. The spectrum of the

SUBMITTER: Musada GR 

PROVIDER: S-EPMC4872281 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature