A Nonsense Variant in the ST14 Gene in Akhal-Teke Horses with Naked Foal Syndrome. Issue 4 (1st April 2017)

• Record Type: Journal Article
• Authors: Bauer, Anina; Hiemesch, Theresa; Jagannathan, Vidhya; Neuditschko, Markus; Bachmann, Iris; Rieder, Stefan; Mikko, Sofia; Penedo, M Cecilia; Tarasova, Nadja; Vitková, Martina; Sirtori, Nicolò; Roccabianca, Paola; Leeb, Tosso; Welle, Monika M
• Is Part Of: G3. Volume 7:Issue 4(2017)
• Page Start: 1315
• Page End: 1321
• Publication Date: 2017-04-01
• Subjects: Equus caballus -- dermatology -- skin -- hair -- genodermatosis -- whole genome sequencing; Genetics -- Research -- Periodicals; Genomics -- Periodicals; Genetics; Genomics; Genes; Genetics -- Research; Genomics; Electronic journals; Periodical; Periodicals; Fulltext; Internet Resources; Periodicals; 572.8
• DOI: 10.1534/g3.117.039511
• Languages: English
• ISSNs: 2160-1836

Abstract

Abstract: Naked foal syndrome (NFS) is a genodermatosis in the Akhal-Teke horse breed. We provide the first scientific description of this phenotype. Affected horses have almost no hair and show a mild ichthyosis. So far, all known NFS affected horses died between a few weeks and 3 yr of age. It is not clear whether a specific pathology caused the premature deaths. NFS is inherited as a monogenic autosomal recessive trait. We mapped the disease causing genetic variant to two segments on chromosomes 7 and 27 in the equine genome. Whole genome sequencing of two affected horses, two obligate carriers, and 75 control horses from other breeds revealed a single nonsynonymous genetic variant on the chromosome 7 segment that was perfectly associated with NFS. The affected horses were homozygous for ST14 :c.388G>T, a nonsense variant that truncates >80% of the open reading frame of the ST14 gene (p.Glu130*). The variant leads to partial nonsense-mediated decay of the mutant transcript. Genetic variants in the ST14 gene are responsible for autosomal recessive congenital ichthyosis 11 in humans. Thus, the identified equine ST14 :c.388G>T variant is an excellent candidate causative variant for NFS, and the affected horses represent a large animal model for a known human genodermatosis. Our findings will enable genetic testing to avoid the nonintentional breeding of NFS-affected foals.