Categories: Vision / eye phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 217090 (trait) , 173350 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: 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 (Dog) (VBO_0200442), Golden Retriever (Dog) (VBO_0200610), Maltese (Dog) (VBO_0200856), Scottish Terrier (Dog) (VBO_0201198), Yorkshire Terrier (Dog) (VBO_0201448).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene: