OMIA:000328-9685 : Dermatosparaxis Ehlers-Danlos syndrome (dEDS), ADAMTS2-related in Felis catus (domestic cat) |
In other species: dog , taurine cattle , sheep
Categories: Integument (skin) phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 225410 (trait) , 604539 (gene)
Links to MONDO diseases:
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2023
Species-specific description: Although evidence was initially incomplete, this disorder in cats was expected to be due to variants in the gene for the enzyme procollagen I amino proteinase, which is the enzyme responsible for removing "surplus" amino acids from the N-terminal end of procollagen-I molecules. Simon et al. (2023) confirmed that the disease in European domestic shorthair cats is due to ADAMTS2 loss-of-function variants.
Molecular basis: Simon et al. (2023): "The complete genome of an affected [European domestic shorthair] kitten was sequenced. A one base pair duplication, c.698dup, leading to a frameshift in the candidate gene ADAMTS2 was identified, p.(Ser235fs*3). The variant is located in a polyC stretch and leads to an expansion from 8 to 9 cytosines in the mutant allele. All four affected cats [sired by the same tomcat, but born by three different mothers] carried the frameshift duplication in a homozygous state. Genotypes at this variant showed perfect co-segregation with the autosomal recessive EDS phenotype in the available family. The mutant allele did not occur in 48 unrelated control cats."
Genetic engineering:
Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing
Clinical features: Simon et al. (2023): "The [European domestic shorthair] kittens had easily torn skin resulting in non-healing skin wounds."
Pathology: Simon et al. (2023): "Both clinically and histologically, the skin [of affected European domestic shorthair kittens] showed thin epidermis in addition to inflammatory changes. Changes in collagen fibers were visible in electron micrographs."
Breeds:
Domestic Shorthair,
Himalayan (Cat) (VBO_0100117).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| ADAMTS2 | ADAM metallopeptidase with thrombospondin type 1 motif, 2 | Felis catus | A1 | NC_058368.1 (90852243..91097387) | ADAMTS2 | Homologene, Ensembl , NCBI gene |
Variants
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
| OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Source of Genetic Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Inferred EVA rsID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1589 | Domestic Shorthair | Ehlers-Danlos syndrome | ADAMTS2 | delins, small (<=20) | Naturally occurring variant | F.catus_Fca126_mat1.0 | A1 | g.90995621dup | c.698dup | p.(Ser235fs*3) | XM_023254116.2; XP_023109884.2 | 2023 | 37462293 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000328-9685: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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.
| 2023 | Simon, R., Kiener, S., Thom, N., Schäfer, L., Müller, J., Schlohsarczyk, E.K., Gärtner, U., Herden, C., Leeb, T., Lühken, G. : |
| Identification of an ADAMTS2 frameshift variant in a cat family with Ehlers-Danlos syndrome. G3 (Bethesda) , 2023. Pubmed reference: 37462293. DOI: 10.1093/g3journal/jkad152. | |
| 2021 | Roberts, J.H., Halper, J. : |
| Connective tissue disorders in domestic animals. Adv Exp Med Biol 1348:325-335, 2021. Pubmed reference: 34807427. DOI: 10.1007/978-3-030-80614-9_15. | |
| Vroman, R., Malfait, A.M., Miller, R.E., Malfait, F., Syx, D. : | |
| Animal models of Ehlers-Danlos syndromes: Phenotype, pathogenesis, and translational potential. Front Genet 12:726474, 2021. Pubmed reference: 34712265. DOI: 10.3389/fgene.2021.726474. | |
| 2020 | Malfait, F., Castori, M., Francomano, C.A., Giunta, C., Kosho, T., Byers, P.H. : |
| The Ehlers-Danlos syndromes. Nat Rev Dis Primers 6:64, 2020. Pubmed reference: 32732924. DOI: 10.1038/s41572-020-0194-9. | |
| 1993 | Lapiere, C.M., Nusgens, B.V. : |
| Ehlers-Danlos syndrome type VII-C, or human dermatosparaxis: the offspring of a union between basic and clinical research Archives of Dermatology 129:1316-1319, 1993. Pubmed reference: 8215498. | |
| 1980 | Collier, L.L., Leathers, C.W., Counts, D.F. : |
| A clinical description of dermatosparaxis in a Himalayan cat Feline Practice 10:25-36, 1980. | |
| Counts, D.F., Byers, P.H., Holbrook, K.A., Hegreberg, G.A. : | |
| Dermatosparaxis in a Himalayan cat. I. Biochemical studies of dermal collagen Journal of Investigative Dermatology 74:96-99, 1980. Pubmed reference: 7351504. | |
| Holbrook, K.A., Byers, P.H., Counts, D.F., Hegreberg, G.A. : | |
| Dermatosparaxis in a Himalayan cat. II. Ultrastructural studies of dermal collagen Journal of Investigative Dermatology 74:100-104, 1980. Pubmed reference: 7351497. |
Edit History
- Created by Frank Nicholas on 16 Jul 2005
- Changed by Imke Tammen2 on 20 Jul 2023
- Changed by Tosso Leeb on 20 Jul 2023