OMIA:002020-9615 : Ligneous membranitis in Canis lupus familiaris
Categories: Vision / eye phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 217090 (trait) , 173350 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2015
Cross-species summary: Also known as Plasminogen deficiency and Ligneous conjunctivitis
Species-specific description: Ainsworth et al. (2015) "Ligneous membranitis (LM) is a rare chronic inflammatory condition of the mucous membranes associated with plasminogen (encoded by PLG) deficiency in affected humans and dogs. ... We identified related Scottish Terriers (littermates) with severe LM and unaffected relatives (sire, dam and a sibling from a previous litter). ... Sequencing of PLG from the affected dogs revealed a homozygous A>T single nucleotide polymorphism in an intron donor site (c.1256+2T>A)."
Turba et al. (2021): "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."
Molecular basis: Ainsworth et al. (2015): an A>T SNP in an intron donor site (c.1256+2T>A)
Turba et al. (2021): a deletion of 5986 bp involving exon 1 and the flanking region
Breeds: Doberman Pinscher, Golden Retriever, Maltese, Scottish Terrier, Yorkshire Terrier.
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|PLG||plasminogen||Canis lupus familiaris||1||NC_051805.1 (49720525..49682496)||PLG||Homologene, Ensembl , NCBI gene|
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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|
|412||Scottish Terrier||Ligneous membranitis||PLG||splicing||Naturally occurring variant||1||c.1256+2T>A||possibly NM_001286960.1 c.1262+2T>A; CanFam3.1 g.49514382A>T||2015||26360520|
|1338||Maltese||Ligneous membranitis||PLG||deletion, gross (>20)||Naturally occurring variant||CanFam3.1||1||g.49534880_49540865del||c.-5645_49+292del||XM_005615560.1; a deletion of 5986 bp involving exon 1 and the flanking region||2021||34370320|
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.
|2021||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. Anim Genet 52:767-71, 2021. Pubmed reference: 34370320 . DOI: 10.1111/age.13130.|
|2016||Mason, S.L., Fisher, C., Ressel, L., Bommer, N.X., Buckley, L.M., Nuttall, T. :|
|Presentation, clinical pathological and post-mortem findings in three related Scottish terriers with ligneous membranitis. J Small Anim Pract 57:271-276, 2016. Pubmed reference: 26840763 . DOI: 10.1111/jsap.12443.|
|Moyer, M.A., Scott, K., Cianciolo, R.E. :|
|Features and outcome of a glomerulonephropathy associated with ligneous conjunctivitis in a Doberman pinscher dog. Can Vet J 57:501-6, 2016. Pubmed reference: 27152037 .|
|2015||Ainsworth, S., Carter, S., Fisher, C., Dawson, J., Makrides, L., Nuttall, T., Mason, S.L. :|
|Ligneous membranitis in Scottish Terriers is associated with a single nucleotide polymorphism in the plasminogen (PLG) gene. Anim Genet 46:707-10, 2015. Pubmed reference: 26360520 . DOI: 10.1111/age.12339.|
|2012||Mason, S.L., McElroy, P., Nuttall, T. :|
|Genetics of ligneous membranitis in a family of Scottish terriers. J Small Anim Pract 53:668, 2012. Pubmed reference: 23898908 . DOI: 10.1111/j.1748-5827.2012.01309.x.|
|Mason, S.L., McElroy, P., Nuttall, T. :|
|Ligneous membranitis in Scottish terriers. Vet Rec 171:160, 2012. Pubmed reference: 22890402 . DOI: 10.1136/vr.e5382.|
|2009||Torres, M.D., Leiva, M., Tabar, M.D., Naranjo, C., Pastor, J., Peña, T. :|
|Ligneous conjunctivitis in a plasminogen-deficient dog: clinical management and 2-year follow-up. Vet Ophthalmol 12:248-53, 2009. Pubmed reference: 19604341 . DOI: 10.1111/j.1463-5224.2009.00700.x.|
|2008||McLean, N.S., Ward, D.A., Hendrix, D.V., Donnell, R.L., Ilha, M.R. :|
|Ligneous conjunctivitis secondary to a congenital plasminogen deficiency in a dog. J Am Vet Med Assoc 232:715-21, 2008. Pubmed reference: 18312178 . DOI: 10.2460/javma.232.5.715.|
|1998||Neuman, A.C., Bakke, M.H., Mackersie, C., Hellman, S., Levitt, H. :|
|The effect of compression ratio and release time on the categorical rating of sound quality. J Acoust Soc Am 103:2273-81, 1998. Pubmed reference: 9604341 .|
|1996||Ramsey, D.T., Ketring, K.L., Glaze, M.B., Knight, B., Render, J.A. :|
|Ligneous conjunctivitis in four Doberman pinschers. J Am Anim Hosp Assoc 32:439-47, 1996. Pubmed reference: 8875361 . DOI: 10.5326/15473317-32-5-439.|
- Created by Frank Nicholas on 01 Aug 2016
- Changed by Frank Nicholas on 01 Aug 2016
- Changed by Imke Tammen2 on 13 Aug 2021