OMIA 002031-9615 : Lundehund syndrome in Canis lupus familiaris

Mendelian trait/disorder: unknown

Considered a defect: yes

Year key variant first reported: 2016

Species-specific symbol: LS

Mapping: Metzger et al. (2016): "Comprehensive analysis of bead chip and whole-genome sequencing data for LS in the Lundehund resulted in a genome-wide association signal on CFA 34 and LS-specific runs of homozygosity (ROH) in this region."

Molecular basis: Metzger et al. (2016): "Filtering analysis for variants with predicted high or moderate effects revealed a missense mutation in LEPREL1 1.2 Mb proximal to the region of the genome-wide association, which was shown to be significantly associated with LS. LS-affected Lundehund harbored the mutant LEPREL1:g.139212C>G genotype A/A whereas all controls of other breeds showed the C/C wild type."

Clinical features: Metzger et al. (2016): "the Lundehund harbors a breed disposition for a syndrome comprising particular features of protein-losing enteropathy (PLE), intestinal lymphangiectasia, gastrointestinal disturbance, inflammatory bowel disease and malabsorption designated as Lundehund syndrome (LS) . . . . Clinical signs are diarrhea, vomiting, weight loss, edema and apathy often accompanied with decreased concentrations of albumin and globulin in blood profile"

Breed: Lundehund.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
LEPREL1 Canis lupus familiaris - no genomic information (-..-) LEPREL1 Ensembl

Variants

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 required column headers

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
Lundehund Lundehund syndrome LEPREL1 missense 34 g.139212C>G 2016 27485430

Reference


2016 Metzger, J., Pfahler, S., Distl, O. :
Variant detection and runs of homozygosity in next generation sequencing data elucidate the genetic background of Lundehund syndrome. BMC Genomics 17:535, 2016. Pubmed reference: 27485430. DOI: 10.1186/s12864-016-2844-6.

Edit History


  • Created by Frank Nicholas on 12 Aug 2016
  • Changed by Frank Nicholas on 12 Aug 2016