OMIA 001982-9796 : Ehlers-Danlos Syndrome, type VI in Equus caballus

Possibly relevant human trait(s) and/or gene(s) (MIM number): 225400

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2011

Species-specific name: Warmblood Fragile Foal Syndrome Type 1

Species-specific symbol: WFFS

History: Monthoux et al. (2015) provided the first description of the "clinical and histopathological findings in a foal confirmed to be homozygous positive for WFFS".

Molecular basis: In a patent application, Winand (2011) documented a likely causal mutation as c.2032G>A, p.Gly678Arg in the PLOD1 gene encoding procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1.

Clinical features: A "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." (Monthoux et al., 2015)

Pathology: "Histologic examination revealed abnormally thin dermis, markedly reduced amounts of dermal collagen bundles, with loosely orientation and abnormally large spaces between deep dermal fibers." (Monthoux et al., 2015)

Genetic testing: A DNA test based on the Winand (2011) patent became available commercially through Laboklin GmbH&Co.KG, Bad Kissingen, Germany in 2013 (Monthoux et al., 2015).

Breed: Warmblood.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 Equus caballus 2 NC_009145.3 (39953350..39926928) PLOD1 Homologene, Ensembl, NCBI gene

Variants

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Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Warmblood Ehlers-Danlos Syndrome, type VI PLOD1 missense EquCab2 2 g.39711930G>A c.2032G>A p.G678R 2015 25637337 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool

References


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2015 Monthoux, C., de Brot, S., Jackson, M., Bleul, U., Walter, J. :
Skin malformations in a neonatal foal tested homozygous positive for Warmblood Fragile Foal Syndrome. BMC Vet Res 11:12, 2015. Pubmed reference: 25637337. DOI: 10.1186/s12917-015-0318-8.
2011 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).” 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 :, 2011.

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  • Created by Frank Nicholas on 19 Jan 2016