OMIA 002111-9913 : Cataract, recessive, CPAMD8-related in Bos taurus

Possibly relevant human trait(s) and/or gene(s) (MIM number): 617319

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".

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: Red Holstein Friesian.

Associated gene:

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

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 required column headers

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
Red Holstein Friesian Cataract, recessive, CPAMD8-related CPAMD8 nonsense (stop-gain) UMD 3.1, AC_000164.1 7 g.5995966C>T c.220C>T p.Gln74* 2017 28683140

Reference


2017 Hollmann, A.K., Dammann, I., Wemheuer, W.M., Wemheuer, W.E., Chilla, A., Tipold, A., Schulz-Schaeffer, W.J., Beck, J., Sch├╝tz, 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.

Edit History


  • Created by Frank Nicholas on 07 Jul 2017
  • Changed by Frank Nicholas on 07 Jul 2017