OMIA 001365-9913 : Achromatopsia-3, CNGB3-related in Bos taurus

In other species: dog

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 262300 (trait) , 605080 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2021

Cross-species summary: This disorder has been initially renamed in OMIA on the basis of the review by Miyadera et al. (2012). In 2021, entries for Achromatopsia (cone degeneration, hemeralopia), AMAL (OMIA 001365-9615) and Achromatopsia (cone degeneration, hemeralopia), GSPT (OMIA 001676-9615) were merged and renamed 'Achromatopsia-3, CNGB3-related'.

Species-specific symbol: OH1

Species-specific description: Häfliger et al. (2021) "characterize the phenotype and the genetic aetiology of a recessive form of congenital day-blindness observed in several cases of purebred Original Braunvieh cattle. ... Achromatopsia is a monogenic Mendelian disease characterized by the loss of cone photoreceptor function resulting in day-blindness, total color-blindness, and decreased central visual acuity."

Inheritance: Häfliger et al. (2021) "available pedigree records of all 12 cases were analyzed and multiple inbreeding loops between the parents were found ... . We detected a single common ancestor occurring 8–11 generations ago. Due to the obvious history of inbreeding, a recessive inherited condition was considered.

Molecular basis: Häfliger et al. (2021): "After SNP genotyping and subsequent homozygosity mapping with twelve affected cattle, we performed whole-genome sequencing and variant calling of three cases. We identified a single missense variant in the bovine CNGB3 gene situated in a ~2.5 Mb homozygous genome region on chromosome 14 shared between all cases. All affected cattle were homozygous carriers of the p.Asp251Asn mutation that was predicted to be deleterious, affecting an evolutionary conserved residue."

Clinical features: Häfliger et al. (2021): "Electroretinography in an affected calf revealed absent cone-mediated function, whereas the rods continue to function normally. Brain areas involved in vision were morphologically normal."

Pathology: Häfliger et al. (2021): "When targeting cones by immunofluorescence, a decrease in cone number and an accumulation of beta subunits of cone cyclic-nucleotide gated channel (CNGB3) in the outer plexiform layer of affected animals was obvious."

Prevalence: Häfliger et al. (2021) estimated "an allele frequency of the deleterious allele of ~8%."

Breed: Braunvieh.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
CNGB3 cyclic nucleotide gated channel beta 3 Bos taurus 14 NC_037341.1 (75914395..76103542) CNGB3 Homologene, Ensembl, NCBI gene

Variants

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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
1400 Braunvieh Achromatopsia CNGB3 OH1 missense Naturally occurring variant ARS-UCD1.2 14 g.76011964G>A c.751G>A p.(D251N) XM_015474554.2: c.751G>A, XP_015330040.2: p.Asp251Asn ENSBTAT00000065296.2:c.751G>A ENSBTAP00000054173.2:p.Asp251Asn rs716218235 rs716218235 2021 34830323

Reference


2021 Häfliger, I.M., Marchionatti, E., Stengård, M., Wolf-Hofstetter, S., Paris, J.M., Jacinto, J.G.P., Watté, C., Voelter, K., Occelli, L.M., Komáromy, A.M., Oevermann, A., Goepfert, C., Borgo, A., Roduit, R., Spengeler, M., Seefried, F.R., Drögemüller, C. :
CNGB3 missense variant causes recessive achromatopsia in original Braunvieh cattle. Int J Mol Sci 22:12440, 2021. Pubmed reference: 34830323. DOI: 10.3390/ijms222212440.

Edit History


  • Created by Imke Tammen2 on 24 Dec 2021
  • Changed by Imke Tammen2 on 24 Dec 2021