OMIA 001678-9940 : Epidermolysis bullosa, junctionalis, LAMC2-related in Ovis aries

In other species: horse , cattle

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 226700 (trait) , 226650 (trait) , 150292 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2011

Cross-species summary: Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by blisters and extensive erosions, localized to the skin and mucous membranes. [ Orphanet:79404 ]

Species-specific name: Herlitz type junctional epidermolysis bullosa

Species-specific symbol: HJEB

Molecular basis: Mömke et al. (2011) reported the DNA basis of this disorder in German Black Headed Mutton sheep, as follows: "A two base pair deletion within exon 18 of the LAMC2 gene (FM872310:c.2746delCA) causes a frameshift mutation resulting in a premature stop codon (p.A928*) 13 triplets downstream of this mutation and in addition, introduces an alternative splicing of exon 18 LAMC2. This deletion showed a perfect co-segregation with HJEB in all 740 analysed BHM sheep."

Breed: German Blackheaded Mutton.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
LAMC2 laminin subunit gamma 2 Ovis aries 12 NC_056065.1 (63664387..63732166) LAMC2 Homologene, Ensembl, NCBI gene

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 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.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

OMIA Variant ID Breed(s) Variant Phenotype Gene Allele Type of Variant Source of Genetic Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
507 German Blackheaded Mutton Epidermolysis bullosa, junctionalis, LAMC2-related LAMC2 deletion, small (<=20) Naturally occurring variant Oar_rambouillet_v1.0 12 g.68856318_68856319del c.2746_2747del p.(A928*) FM872310 c.2746delCA 2011 21573221 The genomic location on Oar_rambouillet_v1.0 was determined by Katie Eager, EMAI, NSW Department of Primary Industries.

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.
2012 Ostmeier, M., Kerkmann, A., Frase, R., Ganter, M., Distl, O., Hewicker-Trautwein, M. :
Inherited junctional epidermolysis bullosa (Herlitz type) in German black-headed mutton sheep. J Comp Pathol 146:338-47, 2012. Pubmed reference: 22000950. DOI: 10.1016/j.jcpa.2011.08.008.
2011 Mömke, S., Kerkmann, A., Wöhlke, A., Ostmeier, M., Hewicker-Trautwein, M., Ganter, M., Kijas, J., for the International Sheep Genomics Consortium, Distl, O. :
A frameshift mutation within LAMC2 is responsible for Herlitz type junctional epidermolysis bullosa (HJEB) in black headed mutton sheep. PLoS One 6:e18943, 2011. Pubmed reference: 21573221. DOI: 10.1371/journal.pone.0018943.
2010 Kerkmann, A., Ganter, M., Frase, R., Ostmeier, M., Hewicker-Trautwein, M., Distl, O. :
Epidermolysis bullosa in German black headed mutton sheep. Berl Munch Tierarztl Wochenschr 123:413-21, 2010. Pubmed reference: 21038812.
1974 Alley, M.R., O'Hara, P.J., Middelberg, A. :
An epidermolysis bullosa of sheep New Zealand Veterinary Journal 22:55-59, 1974. Pubmed reference: 4527651. DOI: 10.1080/00480169.1974.34133.

Edit History


  • Created by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 17 Aug 2012
  • Changed by Frank Nicholas on 25 Nov 2013