OMIA 001415-9615 : Hyperkeratosis, epidermolytic in Canis lupus familiaris

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 113800 , 609165 , 607602

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2005

Cross-species summary: Epidermolytic hyperkeratosis

Species-specific description: This disorder is a form of ichthyosis.

Molecular basis: By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Credille et al. (2005) documented the molecular basis of this disorder in a family of Norfolk terrier dogs: "Affected dogs were homozygous for a single base GT>TT change in the consensus donor splice site of intron 5 in [the gene for keratin 10] KRT10. . . . . The mutation caused activation of at least three cryptic or alternative splice sites. Use of the cryptic sites resulted in transcripts containing premature termination codons. One transcript could result in shortening of the proximal portion of the 2B domain before the stutter region."

Clinical features: "Adult dogs with the disease had generalized, pigmented hyperkeratosis with epidermal fragility." (Credille et al., 2005)

Pathology: "Light microscopic examination defined epidermolysis with hyperkeratosis; ultrastructural changes included a decrease in tonofilaments and abnormal filament aggregation in upper spinous and granular layer keratinocytes." (Credille et al., 2005)

Breed: Norfolk terrier.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
KRT10 keratin 10, type I Canis lupus familiaris 9 NC_006591.3 (21863715..21868587) KRT10 Homologene, Ensembl, NCBI gene

Variants

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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
Norfolk terrier Hyperkeratosis, epidermolytic KRT10 splicing "a single base GT>TT change in the consensus donor splice site of intron 5" 2005 16029326

References


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.
2005 Barnhart, KF., Credille, KM., Ambrus, A., Dunstan, RW. :
Preservation of phenotype in an organotypic cell culture model of a recessive keratinization defect of Norfolk terrier dogs. Exp Dermatol 14:481-90, 2005. Pubmed reference: 15946235. DOI: 10.1111/j.0906-6705.2005.00306.x.
Credille, KM., Barnhart, KF., Minor, JS., Dunstan, RW. :
Mild recessive epidermolytic hyperkeratosis associated with a novel keratin 10 donor splice-site mutation in a family of Norfolk terrier dogs. Br J Dermatol 153:51-8, 2005. Pubmed reference: 16029326. DOI: 10.1111/j.1365-2133.2005.06735.x.
2004 Barnhart, KF., Credille, KM., Ambrus, A., Dunstan, RW. :
A heritable keratinization defect of the superficial epidermis in norfolk terriers. J Comp Pathol 130:246-54, 2004. Pubmed reference: 15053927. DOI: 10.1016/j.jcpa.2003.11.003.
2000 Mecklenburg, L., Hetzel, U., Ueberschär, S. :
Epidermolytic ichthyosis in a dog: clinical, histopathological, immunohistochemical and ultrastructural findings. J Comp Pathol 122:307-11, 2000. Pubmed reference: 10805985. DOI: 10.1053/jcpa.1999.0371.

Edit History


  • Created by Frank Nicholas on 05 Oct 2005
  • Changed by Frank Nicholas on 28 Sep 2011
  • Changed by Frank Nicholas on 12 Dec 2011
  • Changed by Frank Nicholas on 16 Jan 2012
  • Changed by Frank Nicholas on 27 Jan 2012
  • Changed by Frank Nicholas on 21 Oct 2012