A Nonsense Variant in the ST14 Gene in Akhal-Teke Horses with Naked Foal Syndrome.

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<

SUBMITTER: Bauer A 

PROVIDER: S-EPMC5386879 | biostudies-literature | 2017 Apr

REPOSITORIES: biostudies-literature