OMIA 002117-9615 : CHILD-like syndrome in Canis lupus familiaris
De Lucia et al. (2019): "Alopecic scaly plaques following the Blaschko’s lines on the limbs, the head, the dorsal neck and the trunk, and severe foot pads hyperkeratosis were the most relevant lesions"Pathology: Bauer et al. (2017):"The histopathological findings were identical in all biopsies . . . . Multifocally, the epidermis and the wall of the hair follicular infundibuli were moderately to severely hyperplastic with abrupt transition to normal skin. Within the hyperplastic area the infundibular epithelium was covered by thick layers of densely packed parakeratotickeratin which was distending the infundibuli. The parakeratotic keratin was often protruding above the epidermal surface. The size of the keratohyalin granules within the granular cell layers of the epidermis and the infundibular wall was within the normal range. Within the parakeratotic keratin, multifocally variable numbers of coccoid bacteria were present and occasionally the lumen of infundibuli contained degenerate neutrophils. Sebaceous glands appeared normal. The interfollicular epidermis was covered by moderate to large amounts of laminar to compact mostly orthokeratotic, but also some parakeratotic keratin. Within the keratin layers of the epidermis multifocally degenerate neutrophils, nuclear debris and small numbers of coccoid bacteria were present. Multifocally exocytosis of neutrophils was seen. Within the superficial dermis there was a mild pigmentary incontinence and a moderate perivascular infiltrate composed of neutrophils, mast cells and fewer lymphocytes." Breed: Labrador Retriever. Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|NSDHL||NAD(P) dependent steroid dehydrogenase-like||Canis lupus familiaris||X||NC_006621.3 (120720118..120754573)||NSDHL||Homologene, Ensembl, NCBI gene|
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|
|Labrador Retriever||CHILD-like syndrome||NSDHL||deletion, gross (>20)||CanFam3.1||X||g.120,749,179_120,763,577del14||2017||28739597|
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2019||De Lucia, M., Angileri, M., Bauer, A., Spycher, M., Jaggannathan, V., Denti, D., Di Diodoro, F., Ferro, S., Mezzalira, G., Welle, M., Leeb, T., De Lucia, M., Angileri, M., Bauer, A., Spycher, M., Jaggannathan, V., Denti, D., Di Diodoro, F., Ferro, S., Mezzalira, G., Welle, M., Leeb, T. :|
|X-linked cutaneous mosaicism in a dog. Vet Dermatol 30:361-362, 2019. Pubmed reference: 31012178. DOI: 10.1111/vde.12748.|
|2017||Bauer, A., De Lucia, M., Jagannathan, V., Mezzalira, G., Casal, M.L., Welle, M.M., Leeb, T. :|
|A Large Deletion in the NSDHL Gene in Labrador Retrievers with a Congenital Cornification Disorder. G3 (Bethesda) 7:3115-3121, 2017. Pubmed reference: 28739597. DOI: 10.1534/g3.117.1124.|
|2008||Cadiergues, M.C., Patel, A., Shearer, D.H., Fermor, R., Miah, S., Hendricks, A. :|
|Cornification defect in the golden retriever: clinical, histopathological, ultrastructural and genetic characterisation. Vet Dermatol 19:120-9, 2008. Pubmed reference: 18477327. DOI: 10.1111/j.1365-3164.2008.00667.x.|
|1998||Lewis, D.T., Messinger, L.M., Ginn, P.E., Ford, M.J. :|
|A hereditary disorder of cornification and multiple congenital defects in five Rottweiler dogs Veterinary Dermatology 9:61-72, 1998.|
- Created by Frank Nicholas on 15 Aug 2017
- Changed by Frank Nicholas on 15 Aug 2017
- Changed by Frank Nicholas on 21 Jan 2018
- Changed by Frank Nicholas on 25 Apr 2019