Murgiano, Leonardo; Wiedemar, Natalie; Jagannathan, Vidhya; Isling, Louise K; Drögemüller, Cord; Agerholm, Jørgen S (2015). Epidermolysis bullosa in Danish Hereford calves is caused by a deletion in LAMC2 gene. BMC veterinary research, 11(1), p. 334. BioMed Central 10.1186/s12917-015-0334-8
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BACKGROUND
Heritable forms of epidermolysis bullosa (EB) constitute a heterogeneous group of skin disorders of genetic aetiology that are characterised by skin and mucous membrane blistering and ulceration in response to even minor trauma. Here we report the occurrence of EB in three Danish Hereford cattle from one herd.
RESULTS
Two of the animals were necropsied and showed oral mucosal blistering, skin ulcerations and partly loss of horn on the claws. Lesions were histologically characterized by subepidermal blisters and ulcers. Analysis of the family tree indicated that inbreeding and the transmission of a single recessive mutation from a common ancestor could be causative. We performed whole genome sequencing of one affected calf and searched all coding DNA variants. Thereby, we detected a homozygous 2.4 kb deletion encompassing the first exon of the LAMC2 gene, encoding for laminin gamma 2 protein. This loss of function mutation completely removes the start codon of this gene and is therefore predicted to be completely disruptive. The deletion co-segregates with the EB phenotype in the family and absent in normal cattle of various breeds. Verifying the homozygous private variants present in candidate genes allowed us to quickly identify the causative mutation and contribute to the final diagnosis of junctional EB in Hereford cattle.
CONCLUSIONS
Our investigation confirms the known role of laminin gamma 2 in EB aetiology and shows the importance of whole genome sequencing in the analysis of rare diseases in livestock.
Item Type: |
Journal Article (Original Article) |
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Division/Institute: |
05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH) 05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH) > Institute of Genetics |
UniBE Contributor: |
Murgiano, Leonardo, Wiedemar, Natalie, Jagannathan, Vidya, Drögemüller, Cord |
Subjects: |
600 Technology > 630 Agriculture 500 Science > 570 Life sciences; biology 500 Science > 590 Animals (Zoology) 600 Technology > 610 Medicine & health |
ISSN: |
1746-6148 |
Publisher: |
BioMed Central |
Language: |
English |
Submitter: |
Cord Drögemüller |
Date Deposited: |
22 Apr 2015 11:09 |
Last Modified: |
05 Dec 2022 14:45 |
Publisher DOI: |
10.1186/s12917-015-0334-8 |
PubMed ID: |
25888738 |
BORIS DOI: |
10.7892/boris.66885 |
URI: |
https://boris.unibe.ch/id/eprint/66885 |
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