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

B.J. Ducro, A. Schurink*, J.W.M. Bastiaansen, I.J.M. Boegheim, F.G. van Steenbeek, M. Vos-Loohuis, I.J. Nijman, G.R. Monroe, I. Hellinga, B.W. Dibbits, W. Back, P.A.J. Leegwater

*Corresponding author for this work

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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 T corresponding to XP_001491595 p.Gln475* was identical to a B3GALNT2 mutation identified in a human case of muscular dystrophy-dystroglycanopathy with hydrocephalus. All 16 available cases and none of the controls were homozygous for the mutation, and all 17 obligate carriers (= dams of cases) were heterozygous. A random sample of the Friesian horse population (n¿=¿865) was tested for the mutation in a commercial laboratory. One-hundred and forty-seven horses were carrier and 718 horses were homozygous for the normal allele; the estimated allele frequency in the Friesian horse population is 0.085. Conclusions Hydrocephalus in Friesian horses has an autosomal recessive mode of inheritance. A nonsense mutation XM_001491545 c.1423C>T corresponding to XP_001491595 p.Gln475* in B3GALNT2 (1:75,859,296–75,909,376) is concordant with hydrocephalus in Friesian horses. Application of a DNA test in the breeding programme will reduce the losses caused by hydrocephalus in the Friesian horse population.
Original languageEnglish
Article number761
Number of pages9
JournalBMC Genomics
Publication statusPublished - 2015


  • B3GALNT2
  • Friesian horse
  • Genome-wide association study
  • Hydrocephalus
  • Muscular dystrophy
  • Next generation sequencing


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