FREE SHIPPING over $40
OVER 9000 FIVE-STAR REVIEWS
5% OFF ALL SUBSCRIPTIONS
100% HAPPINESS GUARANTEE
Analyze Diet
0
Home / Equine Research Bank / BMC Vet Res / Skin malformations in a neonatal foal tested homozygous posi...
BMC veterinary research2015; 11; 12; doi: 10.1186/s12917-015-0318-8

Skin malformations in a neonatal foal tested homozygous positive for Warmblood Fragile Foal Syndrome.

Abstract: Skin malformations that resembled manifestations of Ehlers-Danlos-Syndrome were described in a variety of domestic animals during the last century as cutis hyperelastica, hyperelastosis cutis, dermatosparaxis, dermal/collagen dysplasia, dermal/cutaneous asthenia or Ehlers-Danlos-like syndrome/s. In 2007, the mutation responsible for Hereditary Equine Regional Dermal Asthenia (HERDA) in Quarter Horses was discovered. Several case reports are available for similar malformations in other breeds than Quarter Horses (Draught Horses, Arabians, and Thoroughbreds) including four case reports for Warmblood horses. Since 2013, a genetic test for the Warmblood Fragile Foal Syndrome Type 1 (WFFS), interrogating the causative point mutation in the equine procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 (PLOD1, or lysyl hydroxylase 1) gene, has become available. Only limited data are available on the occurrence rate and clinical characteristics of this newly detected genetic disease in horses. In humans mutations in this gene are associated with Ehlers-Danlos Syndrome Type VI (kyphoscoliotic form). Methods: This is the first report describing the clinical and histopathological findings in a foal confirmed to be homozygous positive for WFFS. The Warmblood filly was born with very thin, friable skin, skin lesions on the legs and the head, and an open abdomen. These abnormalities required euthanasia just after delivery. Histologic examination revealed abnormally thin dermis, markedly reduced amounts of dermal collagen bundles, with loosely orientation and abnormally large spaces between deep dermal fibers. Conclusions: WFFS is a novel genetic disease in horses and should be considered in cases of abortion, stillbirth, skin lesions and malformations of the skin in neonatal foals. Genetic testing of suspicious cases will contribute to evaluate the frequency of occurrence of clinical WFFS cases and its relevance for the horse population.
Get Full Text
Publication Date: 2015-01-31 PubMed ID: 25637337PubMed Central: PMC4327794DOI: 10.1186/s12917-015-0318-8Google Scholar: Lookup
The Equine Research Bank provides access to a large database of publicly available scientific literature. Inclusion in the Research Bank does not imply endorsement of study methods or findings by Mad Barn.
LinkedInCopy
  • Case Reports
  • Journal Article

Summary

This research summary has been generated with artificial intelligence and may contain errors and omissions. Refer to the original study to confirm details provided. Submit correction.

The study presents clinical and pathological findings from a foal affected by Warmblood Fragile Foal Syndrome (WFFS). The findings revealed genetic disease manifested as thin and fragile skin, reduced dermal collagen, and abnormally large spaces between dermal fibers.

Introduction

The research paper focuses on analyzing a disease appearing in a newborn foal, known as Warmblood Fragile Foal Syndrome (WFFS). This genetic disease is characterized by thin, breakable skin, skin abnormalities, and a lesioned and open abdomen. To explore this disease fully, an in-depth study of the clinical features and pathology of a foal displaying this abnormality was carried out.

About Warmblood Fragile Foal Syndrome (WFFS)

  • The disease is caused by a specific mutation in the equine procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 (PLOD1, or lysyl hydroxylase 1) gene.
  • In humans, mutations in this gene are associated with Ehlers-Danlos Syndrome Type VI.
  • This disease has been reported in different breeds of horses, such as Quarter Horses, Draught Horses, Arabians, and Thoroughbreds, and is now starting to emerge in Warmblood horses.

Study and Findings

  • This is the first study that describes the clinical and pathological findings of a foal suffering from WFFS.
  • The foal was observed to have very thin and breakable skin, lesions on the head and legs, and an opened abdomen. Unfortunately, the severity of these abnormalities required euthanasia right after delivery.
  • The histological examination of the foal revealed a thin dermis, a significant reduction in dermal collagen bundles, and unusually large spaces between the deep dermal fibers.

Conclusion

WFFS is a newly discovered genetic disease in horses that can potentially have significant impacts on the horse population, causing abortions, stillbirths, and malformations in the skin of newborn foals. Conducting genetic tests in suspicious cases can help assess the frequency of clinical WFFS cases and its relevance to the horse population. This research demonstrates the importance of being aware of this genetic disease when diagnosing skin abnormalities in neonatal foals.

Cite This Article

APA
Monthoux C, de Brot S, Jackson M, Bleul U, Walter J. (2015). Skin malformations in a neonatal foal tested homozygous positive for Warmblood Fragile Foal Syndrome. BMC Vet Res, 11, 12. https://doi.org/10.1186/s12917-015-0318-8

Publication

BMC veterinary research
ISSN: 1746-6148
NlmUniqueID: 101249759
Country: England
Language: English
Volume: 11
Pages: 12

Researcher Affiliations

Monthoux, Chloé
  • Clinic of Reproductive Medicine, Vetsuisse Faculty, University of Zurich, Winterthurerstrasse 260, 8057, Zurich, Switzerland. cmonthoux@vetclinics.uzh.ch.
de Brot, Simone
  • Institute of Veterinary Pathology, Vetsuisse Faculty, University of Zurich, Winterthurerstrasse 260, 8057, Zurich, Switzerland. simone.debrot@nottingham.ac.uk.
  • Current address: School of Veterinary Medicine and Science, University of Nottingham, Sutton Bonington, LE12 5RD, UK. simone.debrot@nottingham.ac.uk.
Jackson, Michelle
  • Equine Department, Section Surgery, Vetsuisse Faculty, University of Zurich, Winterthurerstrasse 260, 8057, Zurich, Switzerland. mjackson@vetclinics.uzh.ch.
Bleul, Ulrich
  • Clinic of Reproductive Medicine, Vetsuisse Faculty, University of Zurich, Winterthurerstrasse 260, 8057, Zurich, Switzerland. ubleul@vetclinics.uzh.ch.
Walter, Jasmin
  • Clinic of Reproductive Medicine, Vetsuisse Faculty, University of Zurich, Winterthurerstrasse 260, 8057, Zurich, Switzerland. jwalter@vetclinics.uzh.ch.

MeSH Terms

  • Animals
  • Animals, Newborn / genetics
  • Ehlers-Danlos Syndrome / genetics
  • Ehlers-Danlos Syndrome / pathology
  • Ehlers-Danlos Syndrome / veterinary
  • Female
  • Homozygote
  • Horse Diseases / genetics
  • Horse Diseases / pathology
  • Horses / genetics
  • Pedigree
  • Skin / pathology

References

This article includes 47 references
  1. Tschernogubow A. Über einen Fall von Cutis laxa.. Mhft Prakt Derm Hamburg: Leopold Voss; 1892. P. 76.
  2. Burrows NP. The molecular genetics of the Ehlers-Danlos syndrome.. Clin Exp Dermatol 1999;24:99–106.
    doi: 10.1046/j.1365-2230.1999.00427.xpubmed: 10233664google scholar: lookup
  3. Beighton P, De Paepe A, Steinmann B, Tsipouras P, Wenstrup RJ. Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). Am J Med Genet 1998;77:31–7.
    doi: 10.1002/(SICI)1096-8628(19980428)77:1<31::AID-AJMG8>3.0.CO;2-Opubmed: 9557891google scholar: lookup
  4. De Paepe A, Malfait F. The Ehlers-Danlos syndrome, a disorder with many faces.. Clin Genet 2012;82:1–11.
    doi: 10.1111/j.1399-0004.2012.01858.xpubmed: 22353005google scholar: lookup
  5. Byers PH, Murray ML. Heritable collagen disorders: the paradigm of the Ehlers-Danlos syndrome.. J Invest Dermatol 2012;132:E6–11.
    doi: 10.1038/jid.2011.396pubmed: 23154631google scholar: lookup
  6. Freeman LJ, Hegreberg GA, Robinette JD. Ehlers-Danlos syndrome in dogs and cats.. Semin Vet Med Surg (Small Anim) 1987;2:221–7.
    pubmed: 3423466
  7. Hegreberg GA, Padgett GA, Gorham JR, Henson JB. A connective tissue disease of dogs and mink resembling the Ehlers-Danlos syndrome of man. II. Mode of inheritance.. J Hered 1969;60:249–54.
    pubmed: 5366318
  8. Sinke JD, van Dijk JE, Willemse T. A case of Ehlers-Danlos-like syndrome in a rabbit with a review of the disease in other species.. Vet Q 1997;19:182–5.
    doi: 10.1080/01652176.1997.9694768pubmed: 9413117google scholar: lookup
  9. Witzig P, Suter M, Wild P, Rao VH, Steinmann B, Von Rotz A. Dermatosparaxis in a foal and a cow–a rare disease?. Schweiz Arch Tierheilkd 1984;126:589–96.
    pubmed: 6515392
  10. Helle O, Nes NN. A hereditary skin defect in sheep.. Acta Vet Scand 1972;13:443–5.
    pmc: PMC8561518pubmed: 4673742
  11. Solomons B. Equine cutis hyperelastica.. Equine Vet J 1984;16:541–2.
    doi: 10.1111/j.2042-3306.1984.tb02014.xpubmed: 6519046google scholar: lookup
  12. Bellini MH, Caldini ET, Scapinelli MP, Simoes MJ, Machado DB, Nurmberg R. Increased elastic microfibrils and thickening of fibroblastic nuclear lamina in canine cutaneous asthenia.. Vet Dermatol 2009;20:139–43.
    doi: 10.1111/j.1365-3164.2008.00732.xpubmed: 19192263google scholar: lookup
  13. Ishikawa Y, Vranka JA, Boudko SP, Pokidysheva E, Mizuno K, Zientek K. Mutation in cyclophilin B that causes hyperelastosis cutis in American Quarter Horse does not affect peptidylprolyl cis-trans isomerase activity but shows altered cyclophilin B-protein interactions and affects collagen folding.. J Biol Chem 2012;287:22253–65.
    doi: 10.1074/jbc.M111.333336pmc: PMC3381186pubmed: 22556420google scholar: lookup
  14. Esser M, Niederacher V, Pfeffer K, Scheuer H. über die selten auftretende Dermatosparaxie (Ehlers-Danlos-Syndrom) bei einem Fohlen - ein Fallbericht.. Pferdeheilkunde 1999;15:434–6.
  15. Marshall VL, Secombe C, Nicholls PK. Cutaneous asthenia in a Warmblood foal.. Aust Vet J 2011;89:77–81.
    doi: 10.1111/j.1751-0813.2010.00683.xpubmed: 21323653google scholar: lookup
  16. Rashmir-Raven A. Heritable equine regional dermal asthenia.. Vet Clin North Am Equine Pract 2013;29:689–702.
    doi: 10.1016/j.cveq.2013.09.001pubmed: 24267684google scholar: lookup
  17. Rodriguez F, Herraez P, Espinosa de los Monteros A, Calabuig P, Rodriguez JL. Collagen dysplasia in a litter of Garafiano shepherd dogs.. Zentralbl Veterinarmed A 1996;43:509–12.
    doi: 10.1111/j.1439-0442.1996.tb00482.xpubmed: 8940898google scholar: lookup
  18. Ehlers-Danlos Syndrome, Kyphoscoliotic Form [http://www.ncbi.nlm.nih.gov/books/NBK1462/]
  19. Yeowell HN, Walker LC. Mutations in the lysyl hydroxylase 1 gene that result in enzyme deficiency and the clinical phenotype of Ehlers-Danlos syndrome type VI.. Mol Genet Metab 2000;71:212–24.
    doi: 10.1006/mgme.2000.3076pubmed: 11001813google scholar: lookup
  20. Giunta C, Randolph A, Steinmann B. Mutation analysis of the PLOD1 gene: an efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA). Mol Genet Metab 2005;86:269–76.
    doi: 10.1016/j.ymgme.2005.04.014pubmed: 15979919google scholar: lookup
  21. Walker LC, Overstreet MA, Siddiqui A, De Paepe A, Ceylaner G, Malfait F. A novel mutation in the lysyl hydroxylase 1 gene causes decreased lysyl hydroxylase activity in an Ehlers-Danlos VIA patient.. J Invest Dermatol 2005;124:914–8.
    doi: 10.1111/j.0022-202X.2005.23727.xpubmed: 15854030google scholar: lookup
  22. Lapiere CM, Lenaers A, Kohn LD. Procollagen peptidase: an enzyme excising the coordination peptides of procollagen.. Proc Natl Acad Sci U S A 1971;68:3054–8.
    doi: 10.1073/pnas.68.12.3054pmc: PMC389589pubmed: 5289249google scholar: lookup
  23. Winter T, Börgel C, Aupperle H, Schoon HA. Eine dem Ehlers-Danlos Syndrom des Menschen ähnliche Bindegewebserkrankung der Haut bei einem Fohlen.. Pferdeheilkunde 2004;20:19–22.
  24. Rufenacht S, Straub R, Steinmann B, Winand N, Bidaut A, Stoffel MH. Swiss warmblood horse with symptoms of hereditary equine regional dermal asthenia without mutation in the cyclophylin B gene (PPIB). Schweiz Arch Tierheilkd 2010;152:188–92.
    doi: 10.1024/0036-7281/a000042pubmed: 20361398google scholar: lookup
  25. Gunson DE, Halliwell RE, Minor RR. Dermal collagen degradation and phagocytosis. Occurrence in a horse with hyperextensible fragile skin.. Arch Dermatol 1984;120:599–604.
    doi: 10.1001/archderm.1984.01650410041013pubmed: 6721521google scholar: lookup
  26. White SD, Affolter VK, Bannasch DL, Schultheiss PC, Hamar DW, Chapman PL. Hereditary equine regional dermal asthenia (“hyperelastosis cutis”) in 50 horses: clinical, histological, immunohistological and ultrastructural findings.. Vet Dermatol 2004;15:207–17.
    doi: 10.1111/j.1365-3164.2004.00402.xpubmed: 15305927google scholar: lookup
  27. White SD, Affolter VK, Schultheiss PC, Ball BA, Wessel MT, Kass P. Clinical and pathological findings in a HERDA-affected foal for 1.5 years of life.. Vet Dermatol 2007;18:36–40.
    doi: 10.1111/j.1365-3164.2007.00562.xpubmed: 17222238google scholar: lookup
  28. Hardy MH, Fisher KR, Vrablic OE, Yager JA, Nimmo-Wilkie JS, Parker W. An inherited connective tissue disease in the horse.. Lab Invest 1988;59:253–62.
    pubmed: 3404977
  29. Lerner DJ, McCracken MD. Hyperelastosis cutis in 2 Horses.. J Equine Med Surgery 1978;2:350–2.
  30. Brounts SH, Rashmir-Raven AM, Black SS. Zonal dermal separation: a distinctive histopathological lesion associated with hyperelastosis cutis in a Quarter Horse.. Vet Dermatol 2001;12:219–24.
    doi: 10.1046/j.0959-4493.2001.00256.xpubmed: 11493407google scholar: lookup
  31. Bowser JE, Elder SH, Pasquali M, Grady JG, Rashmir-Raven AM, Wills R. Tensile properties in collagen-rich tissues of Quarter Horses with hereditary equine regional dermal asthenia (HERDA). Equine Vet J 2014;46:216–22.
    doi: 10.1111/evj.12110pubmed: 23738970google scholar: lookup
  32. Grady JG, Elder SH, Ryan PL, Swiderski CE, Rashmir-Raven AM. Biomechanical and molecular characteristics of hereditary equine regional dermal asthenia in Quarter Horses.. Vet Dermatol 2009;20:591–9.
    doi: 10.1111/j.1365-3164.2009.00830.xpubmed: 20178499google scholar: lookup
  33. Mochal CA, Miller WW, Cooley AJ, Linford RL, Ryan PL, Rashmir-Raven AM. Ocular findings in Quarter Horses with hereditary equine regional dermal asthenia.. J Am Vet Med Assoc 2010;237:304–10.
    pubmed: 20673112
  34. Tryon RC, Penedo MC, McCue ME, Valberg SJ, Mickelson JR, Famula TR. Evaluation of allele frequencies of inherited disease genes in subgroups of American Quarter Horses.. J Am Vet Med Assoc 2009;234:120–5.
    doi: 10.2460/javma.234.1.120pubmed: 19119976google scholar: lookup
  35. Finno CJ, Spier SJ, Valberg SJ. Equine diseases caused by known genetic mutations.. Vet J 2009;179:336–47.
    doi: 10.1016/j.tvjl.2008.03.016pubmed: 18472287google scholar: lookup
  36. Steelman SMJND, Conant E, Juras R, Cothran EG, Edwards JF, Chowdhary BP. Ehlers-Danlos syndrome in a Quarter Horse gelding: a case report of PPIB-independent HERDA.. J Equine Vet Sci 2013;34:565–8.
    doi: 10.1016/j.jevs.2013.10.178google scholar: lookup
  37. Borges AS, Conceicao LG, Alves AL, Fabris VE, Pessoa MA. Hereditary equine regional dermal asthenia in three related Quarter horses in Brazil.. Vet Dermatol 2005;16:125–30.
    doi: 10.1111/j.1365-3164.2005.00431.xpubmed: 15842544google scholar: lookup
  38. Badial PR, Oliveira-Filho JP, Winand NJ, Borges AS. Allele frequency of hereditary equine regional dermal asthenia in American Quarter horses in Brazil determined by quantitative real-time PCR with high resolution melting analysis.. Vet J 2014;199:306–7.
    doi: 10.1016/j.tvjl.2013.11.008pubmed: 24355815google scholar: lookup
  39. Winand N. Identification of the causative mutation for inherited connective tissue disorders in equines. “United States Department Of Commerce Application Number: 61/486,464; (Filing Date: May 16th, 2011).” Available at http://patentscope.wipo.int/search/en/detail.jsf?docId=WO2012158711&recNum=1&maxRec=1&office=&prevFilter=&sortOption=Pub+Date+Desc&queryString=FP%3A%28WO2012158711%29&tab=PCT+Biblio
  40. Takaluoma K, Hyry M, Lantto J, Sormunen R, Bank RA, Kivirikko KI. Tissue-specific changes in the hydroxylysine content and cross-links of collagens and alterations in fibril morphology in lysyl hydroxylase 1 knock-out mice.. J Biol Chem 2007;282:6588–96.
    doi: 10.1074/jbc.M608830200pubmed: 17197443google scholar: lookup
  41. Wenstrup RJ, Murad S, Pinnell SR. Ehlers-Danlos syndrome type VI: clinical manifestations of collagen lysyl hydroxylase deficiency.. J Pediatr 1989;115:405–9.
    doi: 10.1016/S0022-3476(89)80839-Xpubmed: 2504907google scholar: lookup
  42. Pinnell SR, Krane SM, Kenzora JE, Glimcher MJ. A heritable disorder of connective tissue. Hydroxylysine-deficient collagen disease.. N Engl J Med 1972;286:1013–20.
    doi: 10.1056/NEJM197205112861901pubmed: 5016372google scholar: lookup
  43. Krieg T, Feldmann U, Kessler W, Muller PK. Biochemical characteristics of Ehlers-Danlos syndrome type VI in a family with one affected infant.. Hum Genet 1979;46:41–9.
    doi: 10.1007/BF00278900pubmed: 429005google scholar: lookup
  44. Barabas AP. Ehlers-Danlos syndrome: associated with prematurity and premature rupture of foetal membranes; possible increase in incidence.. Br Med J 1966;2:682–4.
    doi: 10.1136/bmj.2.5515.682pmc: PMC1943830pubmed: 5912902google scholar: lookup
  45. Pope FM, Narcisi P, Nicholls AC, Liberman M, Oorthuys JW. Clinical presentations of Ehlers Danlos syndrome type IV.. Arch Dis Child 1988;63:1016–25.
    doi: 10.1136/adc.63.9.1016pmc: PMC1779096pubmed: 3178263google scholar: lookup
  46. Levick K. Pregnancy loss and fathers with Ehlers-Danlos syndrome.. Lancet 1989;2:1151.
    doi: 10.1016/S0140-6736(89)91508-0pubmed: 2572864google scholar: lookup
  47. Fujimoto A, Wilcox WR, Cohn DH. Clinical, morphological, and biochemical phenotype of a new case of Ehlers-Danlos syndrome type VIIC.. Am J Med Genet 1997;68:25–8.
    doi: 10.1002/(SICI)1096-8628(19970110)68:1<25::AID-AJMG5>3.0.CO;2-Xpubmed: 8986271google scholar: lookup

Citations

This article has been cited 20 times.
  1. Stefaniuk-Szmukier M, Błaszczak A, Długosz B, Musiał A, Ropka-Molik K. Surveillance of a PLOD gene variant linked to fragile foal syndrome in Silesian horses in Poland: implications for genetic monitoring and breeding strategies. J Vet Res 2025 Dec;69(4):600-602.
    doi: 10.2478/jvetres-2025-0060pubmed: 41497457google scholar: lookup
  2. Ablondi M, Eriksson S, Mikko S. Haplotype structure and heterozygosity around the fragile foal syndrome variant in Swedish Warmblod horses. Anim Genet 2025 Jun;56(3):e70022.
    doi: 10.1111/age.70022pubmed: 40524478google scholar: lookup
  3. Ishikawa Y, Tufa SF, Keene DR, Bächinger HP, Winand NJ. Biochemical characterization of collagen I in Warmblood Fragile Foal Syndrome horse lysyl hydroxylase 1 mutation. MicroPubl Biol 2025;2025.
    doi: 10.17912/micropub.biology.001399pubmed: 39839713google scholar: lookup
  4. Lovász L, Sommer-Trembo C, Barth JMI, Scasta JD, Grancharova-Hill R, Lemoine RT, Kerekes V, Merckling L, Bouskila A, Svenning JC, Fages A. Rewilded horses in European nature conservation - a genetics, ethics, and welfare perspective. Biol Rev Camb Philos Soc 2025 Feb;100(1):407-427.
    doi: 10.1111/brv.13146pubmed: 39279124google scholar: lookup
  5. Durward-Akhurst SA, Marlowe JL, Schaefer RJ, Springer K, Grantham B, Carey WK, Bellone RR, Mickelson JR, McCue ME. Predicted genetic burden and frequency of phenotype-associated variants in the horse. Sci Rep 2024 Apr 10;14(1):8396.
    doi: 10.1038/s41598-024-57872-8pubmed: 38600096google scholar: lookup
  6. De Coster T, Zhao Y, Tšuiko O, Demyda-Peyrás S, Van Soom A, Vermeesch JR, Smits K. Genome-wide equine preimplantation genetic testing enabled by simultaneous haplotyping and copy number detection. Sci Rep 2024 Jan 23;14(1):2003.
    doi: 10.1038/s41598-023-48103-7pubmed: 38263320google scholar: lookup
  7. McElroy A, Gray-Edwards H, Coghill LM, Lyons LA. Precision medicine using whole genome sequencing in a cat identifies a novel COL5A1 variant for classical Ehlers-Danlos syndrome. J Vet Intern Med 2023 Sep-Oct;37(5):1716-1724.
    doi: 10.1111/jvim.16805pubmed: 37594181google scholar: lookup
  8. Roach J, Arango Sabogal JC, Smith K, Foote A, Verheyen K, de Mestre AM. Multivariable analysis to determine risk factors associated with abortion in mares. Reprod Fertil 2022 Nov 1;3(4):301-12.
    doi: 10.1530/RAF-22-0087pubmed: 36374277google scholar: lookup
  9. Elcombe ME, Bellone RR, Magdesian KG, Finno CJ. Prevalence of the RAPGEF5 c.2624C>A and PLOD1 c.2032G>A variants associated with equine familial isolated hypoparathyroidism and fragile foal syndrome in the US Thoroughbred population (1988-2019). Equine Vet J 2023 Jul;55(4):666-671.
    doi: 10.1111/evj.13883pubmed: 36199159google scholar: lookup
  10. Wobbe M, Reinhardt F, Reents R, Tetens J, Stock KF. Quantifying the effect of Warmblood Fragile Foal Syndrome on foaling rates in the German riding horse population. PLoS One 2022;17(7):e0267975.
    doi: 10.1371/journal.pone.0267975pubmed: 35901076google scholar: lookup
  11. Ablondi M, Johnsson M, Eriksson S, Sabbioni A, Viklund ÅG, Mikko S. Performance of Swedish Warmblood fragile foal syndrome carriers and breeding prospects. Genet Sel Evol 2022 Jan 21;54(1):4.
    doi: 10.1186/s12711-021-00693-4pubmed: 35062868google scholar: lookup
  12. Grillos AS, Roach JM, de Mestre AM, Foote AK, Kinglsey NB, Mienaltowski MJ, Bellone RR. First reported case of fragile foal syndrome type 1 in the Thoroughbred caused by PLOD1 c.2032G>A. Equine Vet J 2022 Nov;54(6):1086-1093.
    doi: 10.1111/evj.13547pubmed: 34939209google scholar: lookup
  13. Flanagan S, Rowe Á, Duggan V, Markle E, O'Brien M, Barry G. Development of a real-time PCR assay to detect the single nucleotide polymorphism causing Warmblood Fragile Foal Syndrome. PLoS One 2021;16(11):e0259316.
    doi: 10.1371/journal.pone.0259316pubmed: 34748589google scholar: lookup
  14. Vroman R, Malfait AM, Miller RE, Malfait F, Syx D. Animal Models of Ehlers-Danlos Syndromes: Phenotype, Pathogenesis, and Translational Potential. Front Genet 2021;12:726474.
    doi: 10.3389/fgene.2021.726474pubmed: 34712265google scholar: lookup
  15. Rowe Á, Flanagan S, Barry G, Katz LM, Lane EA, Duggan V. Warmblood fragile foal syndrome causative single nucleotide polymorphism frequency in horses in Ireland. Ir Vet J 2021 Oct 18;74(1):27.
    doi: 10.1186/s13620-021-00206-1pubmed: 34663462google scholar: lookup
  16. Reiter S, Wallner B, Brem G, Haring E, Hoelzle L, Stefaniuk-Szmukier M, Długosz B, Piórkowska K, Ropka-Molik K, Malvick J, Penedo MCT, Bellone RR. Distribution of the Warmblood Fragile Foal Syndrome Type 1 Mutation (PLOD1 c.2032G>A) in Different Horse Breeds from Europe and the United States. Genes (Basel) 2020 Dec 18;11(12).
    doi: 10.3390/genes11121518pubmed: 33353040google scholar: lookup
  17. Jacinto JGP, Häfliger IM, Veiga IMB, Letko A, Benazzi C, Bolcato M, Drögemüller C. A Heterozygous Missense Variant in the COL5A2 in Holstein Cattle Resembling the Classical Ehlers-Danlos Syndrome. Animals (Basel) 2020 Oct 30;10(11).
    doi: 10.3390/ani10112002pubmed: 33143196google scholar: lookup
  18. Haythorn A, Young M, Stanton J, Zhang J, Mueller POE, Halper J. Differential gene expression in skin RNA of horses affected with degenerative suspensory ligament desmitis. J Orthop Surg Res 2020 Oct 7;15(1):460.
    doi: 10.1186/s13018-020-01994-ypubmed: 33028365google scholar: lookup
  19. Ablondi M, Eriksson S, Tetu S, Sabbioni A, Viklund Å, Mikko S. Genomic Divergence in Swedish Warmblood Horses Selected for Equestrian Disciplines. Genes (Basel) 2019 Nov 27;10(12).
    doi: 10.3390/genes10120976pubmed: 31783652google scholar: lookup
  20. Bellone RR, Ocampo NR, Hughes SS, Le V, Arthur R, Finno CJ, Penedo MCT. Warmblood fragile foal syndrome type 1 mutation (PLOD1 c.2032G>A) is not associated with catastrophic breakdown and has a low allele frequency in the Thoroughbred breed. Equine Vet J 2020 May;52(3):411-414.
    doi: 10.1111/evj.13182pubmed: 31502696google scholar: lookup
Subscribe to our newsletter
Join 99,021 horse owners like you who receive our email updates on horse health and nutrition.