OMIA 002203-9615 : Ehlers-Danlos syndrome, classic-like, 1 in Canis lupus familiaris

Possibly relevant human trait(s) and/or gene(s) (MIM number): 606408

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2019

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."

Breed: Mixed breed.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
TNXB tenascin XB Canis lupus familiaris 12 NC_006594.3 (1510171..1453227) TNXB Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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.

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
Chihuahua Poodle Ehlers-Danlos syndrome, classic-like, 1 TNXB missense CanFam 3.1 12 g.1,490,385C>T c.2900G>A p.(Gly967Asp) XM_003431680.3:c.2900G>A, p.(Gly967Asp) 2019 31365140
Mixed breed Ehlers-Danlos syndrome, classic-like, 1 TNXB missense CanFam3.1 12 g.1,499,124C>T c.2012G>A p.(Ser671Asn) XM_003431680.3: c.2012G>A, p.(Ser671Asn) 2019 31365140

Reference


2019 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 :, 2019. Pubmed reference: 31365140. DOI: 10.1111/age.12830.

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  • Created by Frank Nicholas on 05 Aug 2019
  • Changed by Frank Nicholas on 05 Aug 2019
  • Changed by Frank Nicholas on 07 Aug 2019