A missense variant in the NSDHL gene in a Chihuahua with a congenital cornification disorder resembling inflammatory linear verrucous epidermal nevi.

Leuthard, Fabienne; Lehner, G; Jagannathan, Vidya; Leeb, Tosso; Welle, Monika Maria (2019). A missense variant in the NSDHL gene in a Chihuahua with a congenital cornification disorder resembling inflammatory linear verrucous epidermal nevi. Animal genetics, 50(6), pp. 768-771. Wiley 10.1111/age.12862

[img] Text (Epub Version)
epub_Leuthard_et_al-2019-Animal_Genetics.pdf - Published Version
Restricted to registered users only
Available under License Publisher holds Copyright.

Download (515kB) | Request a copy
[img] Text
Manuscript_Leuthard_NSDHL_R2_with_track_changes.pdf - Accepted Version
Restricted to registered users only until 2 October 2020.
Available under License Publisher holds Copyright.

Download (299kB) | Request a copy

Congenital hemidysplasia with ichthyosiform nevus and limb defects syndrome in humans is a genodermatosis characterized by inflammatory linear verrucous epidermal nevi (ILVEN), often showing a striking lateralization pattern. It is caused by variants in the NSDHL gene encoding a 3β-hydroxysteroid dehydrogenase involved in the cholesterol biosynthesis pathway. In the present study, we investigated a female Chihuahua, which showed clinical and histological signs of ILVEN. We performed a candidate gene analysis in the affected animal. This analysis revealed a single missense variant in the NSDHL gene in the affected dog (XM_014111859.2:c.700G>A). The variant is predicted to cause a non-conservative amino acid change from glycine to arginine, XP_013967334.1:p.(Gly234Arg). The mutant allele was absent from WGS data of 594 genetically diverse dogs and eight wolves. Sanger sequencing confirmed that the variant was heterozygous in the affected dog and absent from 22 control Chihuahuas. Based on the knowledge about the functional impact of NSDHL variants in dogs and other species, c.700G>A is probably pathogenic and a convincing candidate causative variant for the observed skin lesions in the affected Chihuahua.

Item Type:

Journal Article (Original Article)

Division/Institute:

05 Veterinary Medicine > Research Foci > DermFocus
05 Veterinary Medicine > Department of Infectious Diseases and Pathobiology (DIP) > Institute of Animal Pathology
05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH) > Institute of Genetics

UniBE Contributor:

Leuthard, Fabienne Nadja; Jagannathan, Vidya; Leeb, Tosso and Welle, Monika Maria

Subjects:

500 Science > 590 Animals (Zoology)
600 Technology > 630 Agriculture
500 Science > 570 Life sciences; biology
600 Technology > 610 Medicine & health

ISSN:

1365-2052

Publisher:

Wiley

Language:

English

Submitter:

Tosso Leeb

Date Deposited:

08 Oct 2019 09:28

Last Modified:

05 Nov 2019 01:32

Publisher DOI:

10.1111/age.12862

PubMed ID:

31571289

Uncontrolled Keywords:

Canis lupus familiaris X-chromosome dermatology genodermatosis precision medicine skin

BORIS DOI:

10.7892/boris.133732

URI:

https://boris.unibe.ch/id/eprint/133732

Actions (login required)

Edit item Edit item
Provide Feedback