OMIA:002017-9685 : Glaucoma 3, primary congenital in Felis catus
Categories: Vision / eye phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 613086 (trait) , 602091 (gene)
Links to MONDO diseases:
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2016
Mapping: As reported by Kuehn et al. (2016): "Using a candidate gene approach, significant linkage was established on cat chromosome B3 (LOD 18.38, θ = 0.00) using tightly linked short tandem repeat (STR) loci to the candidate gene, LTBP2."
Molecular basis: Kuehn et al. (2016): "A 4 base-pair insertion was identified in exon 8 [at chrB3: 120995236] of LTBP2 in affected individuals that generates a frame shift that completely alters the downstream open reading frame and eliminates functional domains".
Clinical features: Kuehn et al. (2016): "Elevated intraocular pressure, globe enlargement and elongated ciliary processes were consistently observed in all affected cats by 8 weeks of age. Varying degrees of optic nerve damage resulted by 6 months of age. Although subtle lens zonular instability was a common feature in this cohort, pronounced ectopia lentis was identified in less than 10% of cats examined."
Pathology: Kuehn et al. (2016): "glaucoma in this pedigree is attributed to histologically confirmed arrest in the early post-natal development of the aqueous humor outflow pathways in the anterior segment of the eyes of affected animals."
Breed: Siamese (Cat) (VBO_0100221).
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|LTBP2||latent transforming growth factor beta binding protein 2||Felis catus||B3||NC_058373.1 (119515223..119408963)||LTBP2||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|
|610||Siamese (Cat)||Glaucoma 3, primary congenita||LTBP2||duplication||Naturally occurring variant||Felis_catus_9.0||B3||g.121929604_121929607dup||c.1449_1452dup||p.(A485Gfs)||ENSFCAT00000064963.2; ENSFCAP00000046761.2; published as "a 4-bp insertion in exon 8 located at chrB3: 120995236"[felCat5]||2016||27149523||Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.|
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.
|2016||Kuehn, M.H., Lipsett, K.A., Menotti-Raymond, M., Whitmore, S.S., Scheetz, T.E., David, V.A., O'Brien, S.J., Zhao, Z., Jens, J.K., Snella, E.M., Ellinwood, N.M., McLellan, G.J. :|
|A mutation in LTBP2 causes congenital glaucoma in domestic cats (Felis catus). PLoS One 11:e0154412, 2016. Pubmed reference: 27149523 . DOI: 10.1371/journal.pone.0154412.|
|Kuehn, M.H., Lipsett, K.A., Menotti-Raymond, M., Whitmore, S.S., Scheetz, T.E., David, V.A., O'Brien, S.J., Zhao, Z., Jens, J.K., Snella, E.M., Ellinwood, N.M., McLellan, G.J. :|
|Correction: A mutation in LTBP2 causes congenital glaucoma in domestic cats (Felis catus). PLoS One 11:e0161517, 2016. Pubmed reference: 27537365 . DOI: 10.1371/journal.pone.0161517.|
|2012||Schallek, J.B., McLellan, G.J., Viswanathan, S., Ts'o, D.Y. :|
|Retinal intrinsic optical signals in a cat model of primary congenital glaucoma. Invest Ophthalmol Vis Sci 53:1971-81, 2012. Pubmed reference: 22395886 . DOI: 10.1167/iovs.11-8299.|
|2011||Rutz-Mendicino, M.M., Snella, E.M., Jens, J.K., Gandolfi, B., Carlson, S.A., Kuehn, M.H., McLellan, G.J., Ellinwood, N.M. :|
|Removal of potentially confounding phenotypes from a Siamese-derived feline glaucoma breeding colony. Comp Med 61:251-7, 2011. Pubmed reference: 21819695 .|
|1995||McLellan, G.J., Betts, D.M., Sigle, K., Grozdanic, S. :|
|Congenital glaucoma in the Siamese cat—a novel spontaneous animal model for glaucoma research (abstract) Investigative Ophthalmology & Visual Science 46:134 only, 1995.|
- Created by Frank Nicholas on 27 May 2016
- Changed by Frank Nicholas on 27 May 2016
- Changed by Imke Tammen2 on 27 May 2023