OMIA:002573-151761 : Lewy body-like disease, CADPS2-related in Amazona ochrocephala
Categories: Nervous system phene
Possibly relevant human trait(s) and/or gene(s) (MIM number): 609978 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Probably autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2022
Species-specific description: Lorenzo-Betancor et al. (2022) "present a Yellow-crowned parrot pedigree with a severe progressive early onset neurodegenerative phenotype and widespread Lewy body-like pathology."
Molecular basis: Lorenzo-Betancor et al. (2022): "Whole genome sequencing (WGS) of the three offspring and their parents was performed ... . The WGS data were aligned ... to the budgerigar (Melopsittacus undulatus) reference genome ... . Given the recessive inheritance pattern of the disease (both parents were healthy and related to each other with their three offspring affected), all intergenic variants were first removed, and the remaining variants were restricted to those for which both parents were heterozygous, and the three offspring were homozygotes. ... We identified 88 variants genome-wide that remained after filtering ... one was a missense variant that was located in the calcium-dependent secretion activator 2 (CADPS2; JH556570.1:3828757C > G; c.1675G > C; p.V559L) gene. ... The candidate variant identified in the WGS analysis was assessed for co-segregation with disease by Sanger sequencing in all members of the pedigree ...."
Clinical features: Lorenzo-Betancor et al. (2022): "The phenotype of the three parrots included severe ataxia, rigidity, and tremor, while their parents were phenotypically normal. ... Due to their severe impairment, they were all euthanized at age 3 months ..."
Pathology: Lorenzo-Betancor et al. (2022): "The brains of affected parrots exhibited neuronal loss, spongiosis, and widespread Lewy body-like inclusions in many regions including the midbrain, basal ganglia, and neocortex. Proteasome activity was significantly reduced ... "
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|CADPS2||Amazona ochrocephala||-||no genomic information (-..-)||CADPS2||Ensembl|
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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|
|1490||Lewy body-like disease||CADPS2||missense||Naturally occurring variant||c.1675G>C||p.(V559L)||2022||36086934|
|2022||Lorenzo-Betancor, O., Galosi, L., Bonfili, L., Eleuteri, A.M., Cecarini, V., Verin, R., Dini, F., Attili, A.R., Berardi, S., Biagini, L., Robino, P., Stella, M.C., Yearout, D., Dorschner, M.O., Tsuang, D.W., Rossi, G., Zabetian, C.P. :|
|Homozygous CADPS2 mutations cause deurodegenerative disease with Lewy body-like pathology in parrots. Mov Disord 37:2345-2354, 2022. Pubmed reference: 36086934 . DOI: 10.1002/mds.29211.|
- Created by Imke Tammen2 on 13 Sep 2022
- Changed by Imke Tammen2 on 13 Sep 2022