Ligneous membranitis in Scottish Terriers is associated with a single nucleotide polymorphism in the plasminogen (PLG) gene. (11th September 2015)

• Record Type: Journal Article
• Authors: Ainsworth, Stuart; Carter, Stuart; Fisher, Claire; Dawson, Jenna; Makrides, Loria; Nuttall, Tim; Mason, Sarah L.
• Is Part Of: Animal genetics. Volume 46:Number 6(2015:Dec.)
• Page Start: 707
• Page End: 710
• Publication Date: 2015-09-11
• Subjects: chronic inflammation -- fibrinous lesions -- hypoplasminogenemia -- intron donor site -- mucous membranes; Animal genetics -- Periodicals; 572.8
• DOI: 10.1111/age.12339
• Languages: English
• ISSNs: 0268-9146

Abstract

Summary: 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. In human, the condition is genetic in nature with numerous mutations and polymorphisms in PLG identified in affected individuals and related family members. The condition is uncommonly reported in dogs and, to date, no genetic studies have been performed. We identified related Scottish Terriers (littermates) with severe LM and unaffected relatives (sire, dam and a sibling from a previous litter). Plasma plasminogen activity was below normal in one affected dog but within normal reference intervals for the other. Sequencing of PLG from the affected dogs revealed a homozygous A>T single nucleotide polymorphism in an intron donor site (c.1256+2T>A). The related, unaffected dogs displayed heterozygous alleles at this position (c.1256+2T/A), whereas no mutation was detected in unaffected, non‐related control dogs. This is the first report to identify gene polymorphisms associated with LM in dogs.