Novel Norrie disease gene mutations in Chinese patients with familial exudative vitreoretinopathy.

ABSTRACT:

Purpose

This study aims to analyze the Norrie disease gene (NDP) variants in patients with familial exudative vitreoretinopathy (FEVR) and their clinical features.

Methods

Thirty-three Chinese patients (22 familial and 11 simplex) who were diagnosed as FEVR underwent detailed ocular examinations in Beijing Tongren Hospital. Peripheral venous blood was drawn from the patients and their family members for the extraction of genomic DNA. All exons of NDP gene were analyzed by direct sequencing of PCR-amplified DNA fragments.

Results

Four novel mutations in NDP gene were identified in four X-linked FEVR families: a C → T transversion, c. 625C → T, in exon 3, resulting in a serine-to-proline change in codon 73 (S73P); a C → G transition, c. 751C → G, in exon 3, resulting in

SUBMITTER: Jia LY 

PROVIDER: S-EPMC7885586 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature