Cargando…

A large deletion in the Plasminogen gene is associated with ligneous membranitis in a Maltese dog

Ligneous membranitis/conjunctivitis (LM, OMIM 217090) is a hereditary disorder caused by a congenital plasminogen (PLG) deficiency. In veterinary medicine, LM (OMIA 002020‐9615) has rarely been reported in Golden Retrievers, Yorkshire Terriers, Doberman Pinschers and Scottish Terriers. In the latter...

Descripción completa

Detalles Bibliográficos
Autores principales: Turba, M. E., Ostan, P. C., Ghetti, S., Dajbychova, M., Dondi, F., Gentilini, F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9290685/
https://www.ncbi.nlm.nih.gov/pubmed/34370320
http://dx.doi.org/10.1111/age.13130
_version_ 1784748964644388864
author Turba, M. E.
Ostan, P. C.
Ghetti, S.
Dajbychova, M.
Dondi, F.
Gentilini, F.
author_facet Turba, M. E.
Ostan, P. C.
Ghetti, S.
Dajbychova, M.
Dondi, F.
Gentilini, F.
author_sort Turba, M. E.
collection PubMed
description Ligneous membranitis/conjunctivitis (LM, OMIM 217090) is a hereditary disorder caused by a congenital plasminogen (PLG) deficiency. In veterinary medicine, LM (OMIA 002020‐9615) has rarely been reported in Golden Retrievers, Yorkshire Terriers, Doberman Pinschers and Scottish Terriers. In the latter breed, an A>T variation in an intron donor site of the PLG gene (PLG, c.1256+2T>A) has been found to be the sole causative molecular defect reported to date in dogs. Owing to the absence of plasmin enzymatic clearance which in turn depends on the lack of its proenzyme plasminogen, fibrin deposits tend to accumulate in viscous membranes on the eyes, triggering and sustaining an intense inflammatory response. A case of LM was diagnosed in a 7‐month‐old male Maltese dog. The dog was examined for severe recurrent conjunctivitis. A diagnosis of ligneous conjunctivitis was made by an ophthalmologist after a thorough eye examination and was confirmed by a complete lack of plasma activity of plasminogen. The main local signs were redness of the conjunctiva with persistent membranes having ligneous (wood‐like) membranes on the eyes. The disease was associated with a complex rearrangement involving the plasminogen gene loci, causing the complete deletion of exon 1. This study provides a spontaneous animal model for LM associated with complete plasminogen deficiency and provides a method for detecting affected or carrier dogs.
format Online
Article
Text
id pubmed-9290685
institution National Center for Biotechnology Information
language English
publishDate 2021
publisher John Wiley and Sons Inc.
record_format MEDLINE/PubMed
spelling pubmed-92906852022-07-20 A large deletion in the Plasminogen gene is associated with ligneous membranitis in a Maltese dog Turba, M. E. Ostan, P. C. Ghetti, S. Dajbychova, M. Dondi, F. Gentilini, F. Anim Genet Short Communications Ligneous membranitis/conjunctivitis (LM, OMIM 217090) is a hereditary disorder caused by a congenital plasminogen (PLG) deficiency. In veterinary medicine, LM (OMIA 002020‐9615) has rarely been reported in Golden Retrievers, Yorkshire Terriers, Doberman Pinschers and Scottish Terriers. In the latter breed, an A>T variation in an intron donor site of the PLG gene (PLG, c.1256+2T>A) has been found to be the sole causative molecular defect reported to date in dogs. Owing to the absence of plasmin enzymatic clearance which in turn depends on the lack of its proenzyme plasminogen, fibrin deposits tend to accumulate in viscous membranes on the eyes, triggering and sustaining an intense inflammatory response. A case of LM was diagnosed in a 7‐month‐old male Maltese dog. The dog was examined for severe recurrent conjunctivitis. A diagnosis of ligneous conjunctivitis was made by an ophthalmologist after a thorough eye examination and was confirmed by a complete lack of plasma activity of plasminogen. The main local signs were redness of the conjunctiva with persistent membranes having ligneous (wood‐like) membranes on the eyes. The disease was associated with a complex rearrangement involving the plasminogen gene loci, causing the complete deletion of exon 1. This study provides a spontaneous animal model for LM associated with complete plasminogen deficiency and provides a method for detecting affected or carrier dogs. John Wiley and Sons Inc. 2021-08-09 2021-10 /pmc/articles/PMC9290685/ /pubmed/34370320 http://dx.doi.org/10.1111/age.13130 Text en © 2021 The Authors. Animal Genetics published by John Wiley & Sons Ltd on behalf of Stichting International Foundation for Animal Genetics. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Short Communications
Turba, M. E.
Ostan, P. C.
Ghetti, S.
Dajbychova, M.
Dondi, F.
Gentilini, F.
A large deletion in the Plasminogen gene is associated with ligneous membranitis in a Maltese dog
title A large deletion in the Plasminogen gene is associated with ligneous membranitis in a Maltese dog
title_full A large deletion in the Plasminogen gene is associated with ligneous membranitis in a Maltese dog
title_fullStr A large deletion in the Plasminogen gene is associated with ligneous membranitis in a Maltese dog
title_full_unstemmed A large deletion in the Plasminogen gene is associated with ligneous membranitis in a Maltese dog
title_short A large deletion in the Plasminogen gene is associated with ligneous membranitis in a Maltese dog
title_sort large deletion in the plasminogen gene is associated with ligneous membranitis in a maltese dog
topic Short Communications
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9290685/
https://www.ncbi.nlm.nih.gov/pubmed/34370320
http://dx.doi.org/10.1111/age.13130
work_keys_str_mv AT turbame alargedeletionintheplasminogengeneisassociatedwithligneousmembranitisinamaltesedog
AT ostanpc alargedeletionintheplasminogengeneisassociatedwithligneousmembranitisinamaltesedog
AT ghettis alargedeletionintheplasminogengeneisassociatedwithligneousmembranitisinamaltesedog
AT dajbychovam alargedeletionintheplasminogengeneisassociatedwithligneousmembranitisinamaltesedog
AT dondif alargedeletionintheplasminogengeneisassociatedwithligneousmembranitisinamaltesedog
AT gentilinif alargedeletionintheplasminogengeneisassociatedwithligneousmembranitisinamaltesedog
AT turbame largedeletionintheplasminogengeneisassociatedwithligneousmembranitisinamaltesedog
AT ostanpc largedeletionintheplasminogengeneisassociatedwithligneousmembranitisinamaltesedog
AT ghettis largedeletionintheplasminogengeneisassociatedwithligneousmembranitisinamaltesedog
AT dajbychovam largedeletionintheplasminogengeneisassociatedwithligneousmembranitisinamaltesedog
AT dondif largedeletionintheplasminogengeneisassociatedwithligneousmembranitisinamaltesedog
AT gentilinif largedeletionintheplasminogengeneisassociatedwithligneousmembranitisinamaltesedog