Warmblood Fragile Foal Syndrome causative single nucleotide polymorphism frequency in Warmblood horses in Brazil

• Published in: The veterinary journal (1997) Vol. 248; pp. 101 - 102
• Main Authors: Dias, Natalia Moraes, de Andrade, Danilo Giorgi Abranches, Teixeira-Neto, Antônio Raphael, Trinque, Camila Moreira, Oliveira-Filho, José Paes de, Winand, Nena J., Araújo Jr, João Pessoa, Borges, Alexandre Secorun
• Format: Journal Article
• Language: English
• Published: England Elsevier Ltd 01-06-2019
• Subjects: Animals; Animals, Newborn; Brazil - epidemiology; Collagen; Connective tissue; Ehlers-Danlos Syndrome - genetics; Ehlers-Danlos Syndrome - veterinary; Female; Horse Diseases - epidemiology; Horse Diseases - genetics; Horses; Incidence; Male; Mutation; PLOD1gene; Polymorphism, Single Nucleotide; Brazil; Connective tissue; PLOD1gene; Mutation; Collagen
• ISSN: 1090-0233; 1532-2971
• DOI: 10.1016/j.tvjl.2019.05.002

•This study investigated the Warmblood Fragile Foal Syndrome allele frequency in warmblood horses in Brazil.•The allele frequency in Brazilian horses was 5.5%, which is similar to that reported in the United States and Europe.•Control measures should be adopted to prevent an increase in the incidence of this disorder worldwide.
Warmblood Fragile Foal Syndrome (WFFS) is an autosomal recessive genetic disorder caused by a mutation in the procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 (PLOD1) gene, associated with collagen biosynthesis. WFFS causes lesions and malformations of the skin in neonatal foals, and abortion. The objective of this study was to investigate the allelic frequency of the single nucleotide polymorphism (SNP) c.2032G>A in the PLOD1 gene in warmblood samples from Brazil. Of the 374 Warmblood horses tested, 41 animals (11%) were identified as heterozygous for the WFFS SNP and 333 (89%) were homozygous for the wild-type allele (N/N), and therefore, the allele frequency was 5.5%. This study highlights the importance of control measures to prevent an increase in the incidence of WFFS in Warmblood horses worldwide.