ArticlePloS one2011
A frameshift mutation within LAMC2 is responsible for Herlitz type junctional epidermolysis bullosa (HJEB) in black headed mutton sheep.
Article in PloS one, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 22 citations in OpenAlex.
- SINE Insertion in LAMA3 in Dogs With Junctional Epidermolysis Bullosa.Animal genetics · 2026Article
- A homozygous LAMB3 frameshift variant in junctional epidermolysis bullosa-affected Bleu du Maine sheep.Journal of applied genetics · 2025Article
- IndependentGenes · 2023Article
- A de novo mutation in KRT5 in a crossbred calf with epidermolysis bullosa simplex.Journal of veterinary internal medicine · 2020Article
- Unveiling genomic regions that underlie differences between Afec-Assaf sheep and its parental Awassi breed.Genetics, selection, evolution : GSE · 2017Article
- Epidermolysis bullosa in Danish Hereford calves is caused by a deletion in LAMC2 gene.BMC veterinary research · 2015Article
- Combining GWAS and RNA-Seq Approaches for Detection of the Causal Mutation for Hereditary Junctional Epidermolysis Bullosa in Sheep.PloS one · 2015Article
- Signatures of selection in sheep bred for resistance or susceptibility to gastrointestinal nematodes.BMC genomics · 2014Article
- Occurrence of congenital disorders in Swiss sheep.Acta veterinaria Scandinavica · 2013Article
- Identification of a 31-bp deletion in the RELN gene causing lissencephaly with cerebellar hypoplasia in sheep.PloS one · 2013Article
- Article
- Laminin 332 in junctional epidermolysis bullosa.Cell adhesion & migrationReview
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Junctional epidermolysis bullosa (JEB) is a hereditary mechanobullous skin disease in humans and animals. A Herlitz type JEB was identified in German Black Headed Mutton (BHM) sheep and affected lambs were reproduced in a breeding trial. Affected lambs showed skin and mucous membranes blistering and all affected lambs died within the first weeks of life. The pedigree data were consistent with a monogenic autosomal recessive inheritance. Immunofluorescence showed a reduced expression of laminin 5 protein which consists of 3 subunits encoded by the genes LAMA3, LAMB3 and LAMC2. We screened these genes for polymorphisms. Linkage and genome-wide association analyses identified LAMC2 as the most likely candidate for HJEB. 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. Identification of the LAMC2 deletion means an animal model for HJEB is now available to develop therapeutic approaches of relevance to the human form of this disease.
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