Identification of a variant in NDP associated with X-linked retinal dysplasia in the English cocker spaniel dog.

ABSTRACT:

Purpose

Three related male English Cocker Spaniels (ECS) were reported to be congenitally blind. Examination of one of these revealed complete retinal detachment. A presumptive diagnosis of retinal dysplasia (RD) was provided and pedigree analysis was suggestive of an X-linked mode of inheritance. We sought to investigate the genetic basis of RD in this family of ECS.

Methods

Following whole genome sequencing (WGS) of the one remaining male RD-affected ECS, two distinct investigative approaches were employed: a candidate gene approach and a whole genome approach. In the candidate gene approach, COL9A2, COL9A3, NHEJ1, RS1 and NDP genes were investigated based on their known associations with RD and retinal detachment in dogs and humans. In the whole genome approach, affected

SUBMITTER: Joyce H 

PROVIDER: S-EPMC8096109 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature