Test Detail

Lethal disease of foals caused by a nonsense variant in ST14 (matriptase), with generalised alopecia and skin, hoof and dentition abnormalities. Autosomal recessive inheritance. The test is complementary to the clinical and dermatological examination.

Akhal-Teké. Frequencies: limited data.

- Foals with almost no hair (generalised alopecia)
- Abnormal or thickened skin
- Hoof dystrophy and dental abnormalities
- Early death (lethal)

The dossier records the ST14 gene and the variant NC_009150.3:g.39710628G>T (XM_005611718.2:c.388G>T; p.Glu130Ter; rs5334475187); in the current transcript it corresponds to Glu158. No author or year is stated.

- Genotype breeding animals
- Avoid carrier × carrier matings
- Do not use carriers for breeding
- Register carriers in the studbook

Differential diagnosis with hypotrichosis, curly coat and other ectodermal dysplasias. Complementary: neonatal dermatological examination.

1. OMIA:002096 Síndrome del potro desnudo (ST14) del caballo