A COL7A1 Variant in a Litter of Neonatal Basset Hounds with Dystrophic Epidermolysis Bullosa
We investigated three neonatal Basset Hound littermates with lesions consistent with epidermolysis bullosa (EB), a group of genetic blistering diseases. A clinically normal bitch was bred to her grandfather by artificial insemination. Out of a litter of seven puppies, two affected puppies died and o...
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ftdoajarticles:oai:doaj.org/article:a9fab82b6b5341c0a01ac01205847e6c 2023-05-15T15:50:44+02:00 A COL7A1 Variant in a Litter of Neonatal Basset Hounds with Dystrophic Epidermolysis Bullosa Teresa Maria Garcia Sarah Kiener Vidhya Jagannathan Duncan S. Russell Tosso Leeb 2020-12-01T00:00:00Z https://doi.org/10.3390/genes11121458 https://doaj.org/article/a9fab82b6b5341c0a01ac01205847e6c EN eng MDPI AG https://www.mdpi.com/2073-4425/11/12/1458 https://doaj.org/toc/2073-4425 doi:10.3390/genes11121458 2073-4425 https://doaj.org/article/a9fab82b6b5341c0a01ac01205847e6c Genes, Vol 11, Iss 1458, p 1458 (2020) Canis lupus familiaris whole genome sequence skin dermatology genodermatosis collagen VII Genetics QH426-470 article 2020 ftdoajarticles https://doi.org/10.3390/genes11121458 2022-12-31T15:49:00Z We investigated three neonatal Basset Hound littermates with lesions consistent with epidermolysis bullosa (EB), a group of genetic blistering diseases. A clinically normal bitch was bred to her grandfather by artificial insemination. Out of a litter of seven puppies, two affected puppies died and one was euthanized, with these puppies being submitted for diagnostic necropsy. All had multiple bullae and ulcers involving the nasal planum and paw pads, as well as sloughing claws; one puppy also had oral and esophageal ulcers. The complete genome of one affected puppy was sequenced, and 37 known EB candidate genes were assessed. We found a candidate causative variant in COL7A1 , which encodes the collagen VII alpha 1 chain. The variant is a complex rearrangement involving duplication of a 107 bp region harboring a frameshift deletion of 7 bp. The variant is predicted to truncate more than 75% of the open reading frame, p.(Val677Serfs*11). Targeted genotyping of this duplication confirmed that all three affected puppies were homozygous for the duplication, whereas 12 unaffected Basset Hounds did not carry the duplication. This variant was also not seen in the genomes of more than 600 dogs of other breeds. COL7A1 variants have been identified in humans and dogs with dystrophic epidermolysis bullosa (DEB). The identified COL7A1 variant therefore most likely represents the causative variant and allows the refinement of the preliminary EB diagnosis to DEB. Article in Journal/Newspaper Canis lupus Directory of Open Access Journals: DOAJ Articles Genes 11 12 1458 |
institution |
Open Polar |
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Directory of Open Access Journals: DOAJ Articles |
op_collection_id |
ftdoajarticles |
language |
English |
topic |
Canis lupus familiaris whole genome sequence skin dermatology genodermatosis collagen VII Genetics QH426-470 |
spellingShingle |
Canis lupus familiaris whole genome sequence skin dermatology genodermatosis collagen VII Genetics QH426-470 Teresa Maria Garcia Sarah Kiener Vidhya Jagannathan Duncan S. Russell Tosso Leeb A COL7A1 Variant in a Litter of Neonatal Basset Hounds with Dystrophic Epidermolysis Bullosa |
topic_facet |
Canis lupus familiaris whole genome sequence skin dermatology genodermatosis collagen VII Genetics QH426-470 |
description |
We investigated three neonatal Basset Hound littermates with lesions consistent with epidermolysis bullosa (EB), a group of genetic blistering diseases. A clinically normal bitch was bred to her grandfather by artificial insemination. Out of a litter of seven puppies, two affected puppies died and one was euthanized, with these puppies being submitted for diagnostic necropsy. All had multiple bullae and ulcers involving the nasal planum and paw pads, as well as sloughing claws; one puppy also had oral and esophageal ulcers. The complete genome of one affected puppy was sequenced, and 37 known EB candidate genes were assessed. We found a candidate causative variant in COL7A1 , which encodes the collagen VII alpha 1 chain. The variant is a complex rearrangement involving duplication of a 107 bp region harboring a frameshift deletion of 7 bp. The variant is predicted to truncate more than 75% of the open reading frame, p.(Val677Serfs*11). Targeted genotyping of this duplication confirmed that all three affected puppies were homozygous for the duplication, whereas 12 unaffected Basset Hounds did not carry the duplication. This variant was also not seen in the genomes of more than 600 dogs of other breeds. COL7A1 variants have been identified in humans and dogs with dystrophic epidermolysis bullosa (DEB). The identified COL7A1 variant therefore most likely represents the causative variant and allows the refinement of the preliminary EB diagnosis to DEB. |
format |
Article in Journal/Newspaper |
author |
Teresa Maria Garcia Sarah Kiener Vidhya Jagannathan Duncan S. Russell Tosso Leeb |
author_facet |
Teresa Maria Garcia Sarah Kiener Vidhya Jagannathan Duncan S. Russell Tosso Leeb |
author_sort |
Teresa Maria Garcia |
title |
A COL7A1 Variant in a Litter of Neonatal Basset Hounds with Dystrophic Epidermolysis Bullosa |
title_short |
A COL7A1 Variant in a Litter of Neonatal Basset Hounds with Dystrophic Epidermolysis Bullosa |
title_full |
A COL7A1 Variant in a Litter of Neonatal Basset Hounds with Dystrophic Epidermolysis Bullosa |
title_fullStr |
A COL7A1 Variant in a Litter of Neonatal Basset Hounds with Dystrophic Epidermolysis Bullosa |
title_full_unstemmed |
A COL7A1 Variant in a Litter of Neonatal Basset Hounds with Dystrophic Epidermolysis Bullosa |
title_sort |
col7a1 variant in a litter of neonatal basset hounds with dystrophic epidermolysis bullosa |
publisher |
MDPI AG |
publishDate |
2020 |
url |
https://doi.org/10.3390/genes11121458 https://doaj.org/article/a9fab82b6b5341c0a01ac01205847e6c |
genre |
Canis lupus |
genre_facet |
Canis lupus |
op_source |
Genes, Vol 11, Iss 1458, p 1458 (2020) |
op_relation |
https://www.mdpi.com/2073-4425/11/12/1458 https://doaj.org/toc/2073-4425 doi:10.3390/genes11121458 2073-4425 https://doaj.org/article/a9fab82b6b5341c0a01ac01205847e6c |
op_doi |
https://doi.org/10.3390/genes11121458 |
container_title |
Genes |
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11 |
container_issue |
12 |
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1458 |
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1766385748321239040 |