Australian Cattle Dogs with Neuronal Ceroid Lipofuscinosis are Homozygous for a CLN5 Nonsense Mutation Previously Identified in Border Collies.

ABSTRACT:

Background

Neuronal ceroid lipofuscinosis (NCL), a fatal neurodegenerative disease, has been diagnosed in young adult Australian Cattle Dogs.

Objective

Characterize the Australian Cattle Dog form of NCL and determine its molecular genetic cause.

Animals

Tissues from 4 Australian Cattle Dogs with NCL-like signs and buccal swabs from both parents of a fifth affected breed member. Archived DNA samples from 712 individual dogs were genotyped.

Methods

Tissues were examined by fluorescence, electron, and immunohistochemical microscopy. A whole-genome sequence was generated for 1 affected dog. A TaqMan allelic discrimination assay was used for genotyping.

Results

The accumulation of autofluorescent cytoplasmic storage material with characteristic ultrastructure

SUBMITTER: Kolicheski A 

PROVIDER: S-EPMC5084771 | biostudies-literature | 2016 Jul

REPOSITORIES: biostudies-literature