OMIA 002017-9685 : Glaucoma 3, primary congenital in Felis catus

Possibly relevant human trait(s) and/or gene(s) (MIM number): 613086

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".

Breed: Siamese.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
LTBP2 latent transforming growth factor beta binding protein 2 Felis catus B3 NC_018728.3 (121984465..121878578) LTBP2 Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Glaucoma 3, primary congenita LTBP2 insertion, small (<=20) B3 g.120995236 "a 4-bp insertion in exon 8 located at chrB3: 120995236" 2016 27149523

References


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.

Edit History


  • Created by Frank Nicholas on 27 May 2016
  • Changed by Frank Nicholas on 27 May 2016