Categories: Integument (skin) phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 184900 (trait)

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.

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."

Breed: West Highland White Terrier (Dog) (VBO_0201415).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).