OMIA:002018-9615 : Stiff skin syndrome in Canis lupus familiaris (dog)
Categories: Integument (skin) phene
Possibly relevant human trait(s) and/or gene(s) (MIM number): 184900 (trait)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: no
Inheritance: Doelle et al. (2016) provided limited circumstantial evidence consistent with autosomal recessive inheritance.
Markers: Doelle et al. (2016) were not able to find any likely causal mutations in the two most likely candidate gene (based on human homology; see OMIM entry above), namely ADAMTSL2 and FBN1.
Have human generated variants been created, e.g. through genetic engineering and gene editing
Clinical features: As reported by Doelle et al. (2016), "Affected dogs exhibited markedly indurated skin that was attached firmly to the underlying tissue and incomplete closure of the mouth and eyes. No abnormalities were found by neurological or orthopaedic examination, radiographs of the head or whole body computed tomography. Histologically, the dermis and pannicular septa were thickened by a marked increase in coarse collagen fibres and a mild to moderate increase in collagen fibre diameter."
West Highland White Terrier (Dog) (VBO_0201415).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
Cite this entry
|2016||Doelle, M., Linder, K.E., Boche, J., Jagannathan, V., Leeb, T., Linek, M. :|
|Initial characterization of stiff skin-like syndrome in West Highland white terriers. Vet Dermatol 27:210-e53, 2016. Pubmed reference: 27188772. DOI: 10.1111/vde.12316.|
- Created by Frank Nicholas on 02 Jun 2016