OMIA:002111-9913 : Cataract, recessive, CPAMD8-related in Bos taurus
Categories: Vision / eye phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 617319 (trait) , 608841 (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: 2017
Species-specific name: Morgagnian cataract
Inheritance: Hollmann et al. (2017): "an autosomal recessive inheritance of the cataract phenotype can be inferred from pedigree analyses".
Mapping: From a GWAS on 26 affected and 88 normal Red Holstein Friesians, each genotyped with the Illumina BovineSNP50 BeadChip, yielding 46,075 informative SNPs, Hollmann et al. (2017) observed "a significant association on bovine chromosome 7 at positions 6,166,179 and 12,429,691".
Markers: Braun et al. (2019) reported that "the CPAMD8:g.5995966C>T variant is insufficient to explain the majority of Morgagnian congenital cataract phenotypes in Holsteins. It is very likely that congenital bilateral cataracts may be genetically heterogeneous and not yet known variants in genes other than CPAMD8 and NID1 are involved."
Molecular basis: Hollmann et al. (2017): "Whole genome re-sequencing of one case and four relatives showed a nonsense mutation (g.5995966C>T) in the PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8) gene leading to a premature stop codon (CPAMD8 p.Gln74*)".
Clinical features: Hollmann et al. (2017): "All four examined cases showed bilateral complete mature cataracts at time of birth. No other obvious ophthalmological anomalies were observed at this timepoint. . . . All cases showed a mature to hypermature cataract at time of examination".
Pathology: Hollmann et al. (2017): "Lenses [from affected animals] were usually of irregular shape, about two-thirds to half the size of an unaffected lens, and opaque white. . . . The cataractous lenses showed a loss of lens epithelium and thickening of the capsule . . . , but no clear distinction between basement membrane and connective tissue. The bulk of the lens showed Morgagnian globules . . . , liquefactions and mineralizations . . . confirming the presence of a hypermature cataract. No fibrillary structures could be observed."
Breed: Holstein (red and white) (Cattle) (VBO_0000238).
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|CPAMD8||C3 and PZP-like, alpha-2-macroglobulin domain containing 8||Bos taurus||7||NC_037334.1 (6073292..6174094)||CPAMD8||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|
|358||Holstein (red and white) (Cattle)||Cataract, recessive, CPAMD8-related||CPAMD8||nonsense (stop-gain)||Naturally occurring variant||ARS-UCD1.2||7||g.6073556C>T||c.220C>T||p.(Q74*)||2017||28683140|
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.
|2019||Braun, M., Struck, A.K., Reinartz, S., Heppelmann, M., Rehage, J., Eule, J.C., Ciurkiewicz, M., Beineke, A., Metzger, J., Distl, O. :|
|Study of congenital Morgagnian cataracts in Holstein calves. PLoS One 14:e0226823, 2019. Pubmed reference: 31877171 . DOI: 10.1371/journal.pone.0226823.|
|2017||Hollmann, A.K., Dammann, I., Wemheuer, W.M., Wemheuer, W.E., Chilla, A., Tipold, A., Schulz-Schaeffer, W.J., Beck, J., Schütz, E., Brenig, B. :|
|Morgagnian cataract resulting from a naturally occurring nonsense mutation elucidates a role of CPAMD8 in mammalian lens development. PLoS One 12:e0180665, 2017. Pubmed reference: 28683140 . DOI: 10.1371/journal.pone.0180665.|
- Created by Frank Nicholas on 07 Jul 2017
- Changed by Frank Nicholas on 07 Jul 2017
- Changed by Frank Nicholas on 28 Jan 2020