OMIA:002203-9615 : classic-like Ehlers-Danlos syndrome (clEDS), TNXB-related in Canis lupus familiaris
Categories: Integument (skin) phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 606408 (trait) , 600985 (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: 2019
Species-specific name: classic-like Ehlers-Danlos syndrome (clEDS), TNXB-related; Ehlers-Danlos syndrome, classic-like, 1
Species-specific symbol: clEDS, EDS
Species-specific description: This phene has been renamed from "Ehlers-Danlos syndrome, classic-like, 1" to "classic-like Ehlers-Danlos syndrome (clEDS), TNXB-related" in OMIA on the basis of the review on human Ehlers-Danlos syndromes by Malfait et al. (2020) [2/6/2022].
Inheritance: As reported by Bauer et al. (2019): "Each variant allele was transmitted from one of the case’s parents, consistent with compound heterozygosity."
Molecular basis: Bauer et al. (2019) reported an affected mixed-breed dog that is a compound heterozygote for two potentially causal recessive TNXB variants: c.2012G>A; p.(Ser671Asn) and c.2900G>A; p.(Gly967Asp). The authors state “Given that this is a single case investigation and that we have no functional confirmation of a tenascin XB deficiency, this result must be considered preliminary and should be interpreted with caution.”
Clinical features: Bauer et al. (2019): "The dog was referred because of fragile skin that teared or bruised easily even from minor injuries, leading to severe wounds that healed poorly. According to the owner, the skin fragility had been present since the dog was a puppy. At the time of examination, the dog was 21 months old and appeared in a good general health condition. Neither wounds nor scars were present, but the skin was hyperextensible".
Prevalence: As reported by Bauer et al. (2019): "Although one of the variant alleles, XM_003431680.3:c.2012G>A, p.(Ser671Asn), was private to the family of the affected dog and absent from whole-genome sequencing data of 599 control dogs, the second variant allele, XM_003431680.3:c.2900G>A, p.(Gly967Asp), is present at a low frequency in the Chihuahua and Poodle population." Pathogenicity of both variants is questionable.
Breed: Mixed breed (dog).
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|TNXB||tenascin XB||Canis lupus familiaris||12||NC_051816.1 (1648746..1595038)||TNXB||Homologene, Ensembl , NCBI gene|
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.
|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.|
|2019||Bauer, A., de Lucia, M., Leuthard, F., Jagannathan, V., Leeb, T., Bauer, A., de Lucia, M., Leuthard, F., Jagannathan, V., Leeb, T. :|
|Compound heterozygosity for TNXB genetic variants in a mixed-breed dog with Ehlers-Danlos syndrome. Anim Genet 50:546-549, 2019. Pubmed reference: 31365140 . DOI: 10.1111/age.12830.|
- Created by Frank Nicholas on 05 Aug 2019
- Changed by Frank Nicholas on 05 Aug 2019
- Changed by Frank Nicholas on 07 Aug 2019
- Changed by Tosso Leeb on 03 Jan 2022
- Changed by Tosso Leeb on 02 Jun 2022