000170277 001__ 170277
000170277 005__ 20260410165451.0
000170277 0247_ $$2doi$$a10.1016/j.vas.2026.100626
000170277 0248_ $$2sideral$$a148832
000170277 037__ $$aART-2026-148832
000170277 041__ $$aeng
000170277 100__ $$aPetzl, Eva
000170277 245__ $$aIdentification of a recessive PCDH15 nonsense variant in purebred goats with vestibular dysfunction
000170277 260__ $$c2026
000170277 5060_ $$aAccess copy available to the general public$$fUnrestricted
000170277 5203_ $$aGenetic diseases in goats are less well characterized than in other livestock species. This study reports a previously unrecognized congenital neurological disorder in Bunte Deutsche Edelziege goats and identifies its likely
genetic cause. Between 2019 and 2023, a dairy goat farm observed 21 kids with congenital vestibular disease. The affected kids displayed pronounced, sometimes exuberant, wide bilateral excursions of the head and neck, delayed standing, wide-based stance, and poor postural control, while remaining alert and physically strong. Motor coordination improved with age. One retained female displayed mild persistent deficits and suspected
hearing impairment in adulthood. Postmortem examinations were unremarkable, and infectious or nutritional causes were excluded. The repeated occurrence and pedigree structure suggested an inherited autosomal recessive disorder. Whole-genome sequencing of two affected kids, compared with large control cohorts, revealed a single rare nonsense variant in exon 5 of the PCDH15 gene encoding protocadherin-15. This variant truncates approximately 93% of the protein and is homologous to a pathogenic variant that causes Usher syndrome type 1F in humans. Sanger sequencing confirmed homozygosity in affected animals and heterozygosity in obligate carriers. The variant was absent from 90 unrelated goats of the same breed and over 1600 global controls. These findings indicate a naturally occurring Usher syndrome-like disorder in goats, representing the first such report, and highlight the value of genomic diagnostics for disease prevention and comparative research. The study provides a basis for the molecular diagnosis of similarly affected animals, as well as for genetic testing to prevent further cases.
000170277 540__ $$9info:eu-repo/semantics/openAccess$$aby$$uhttps://creativecommons.org/licenses/by/4.0/deed.es
000170277 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion
000170277 700__ $$aJacinto, Joana
000170277 700__ $$0(orcid)0000-0002-0606-0763$$aCliment Aroz, María$$uUniversidad de Zaragoza
000170277 700__ $$aSuntz, Michael
000170277 700__ $$aKarl, Michael
000170277 700__ $$aPlobner, Lutz
000170277 700__ $$aMatiasek, Kaspar
000170277 700__ $$aFischer, Andrea
000170277 700__ $$aHannemann, Regina
000170277 700__ $$aBalasopoulou, Viktoria
000170277 700__ $$aZerbe, Holm
000170277 700__ $$aBrühschwein, Andreas
000170277 700__ $$aDrögemüller, Cord
000170277 700__ $$aLetko, Anna
000170277 7102_ $$11001$$2025$$aUniversidad de Zaragoza$$bDpto. Anatom.,Embri.Genét.Ani.$$cÁrea Anatom.Anatom.Patológ.Com
000170277 773__ $$g32, [7 pp.] (2026), 100626$$tVeterinary and Animal Science$$x2451-943X
000170277 8564_ $$s4834031$$uhttps://zaguan.unizar.es/record/170277/files/texto_completo.pdf$$yVersión publicada
000170277 8564_ $$s2338153$$uhttps://zaguan.unizar.es/record/170277/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada
000170277 909CO $$ooai:zaguan.unizar.es:170277$$particulos$$pdriver
000170277 951__ $$a2026-04-10-13:45:42
000170277 980__ $$aARTICLE