A nonsense mutation in B3GALNT2 is concordant with hydrocephalus in Friesian horses.

ABSTRACT:

Background

Hydrocephalus in Friesian horses is a developmental disorder that often results in stillbirth of affected foals and dystocia in dams. The occurrence is probably related to a founder effect and inbreeding in the population. The aim of our study was to find genomic associations, to investigate the mode of inheritance, to allow a DNA test for hydrocephalus in Friesian horses to be developed. In case of a monogenic inheritance we aimed to identify the causal mutation.

Results

A genome-wide association study of hydrocephalus in 13 cases and 69 controls using 29,720 SNPs indicated the involvement of a region on ECA1 (P <1.68 × 10(-6)). Next generation DNA sequence analysis of 4 cases and 6 controls of gene exons within the region revealed a mutation in β-1,3-N-acetylgal

SUBMITTER: Ducro BJ 

PROVIDER: S-EPMC4600337 | biostudies-literature | 2015 Oct

REPOSITORIES: biostudies-literature