In the words of Charlier et al. (2008): "a missense mutation in exon 39 (A5804G) resulting in an H1935R substitution in the fourth extracellular loop". The His (normal) form of the peptide is conserved in all vertebrates sequenced to date. (FN 080330) Whole-genome sequencing of the affected Shorthorn calf described by O'Rourke et al. (2017), and subsequent checking for deleterious variants in functional candidate genes, enabled Woolley et al. ...
OMIA ID:2238Inheritance: 5Characterised: YesYear: 2008
Häfliger et al. (2022) report a Scottish Highland calf with "combined lesions compatible with congenital ichthyosis, alopecia, acantholysis of the tongue and corneal defects associated with a DSP missense variant as the most likely underlying cause."
OMIA ID:2243Inheritance: 5Characterised: YesYear: 2022
