OMIA 002573-151761 : Lewy body-like disease, CADPS2-related in Amazona ochrocephala

Possibly relevant human trait(s) and/or gene(s) (MIM number): 609978 (gene)

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 ... "

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
CADPS2 Amazona ochrocephala - no genomic information (-..-) CADPS2 Ensembl

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
1490 Lewy body-like disease CADPS2 missense Naturally occurring variant c.1675G>C p.(V559L) 2022 36086934

Reference


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 neurodegenerative disease with Lewy body-like pathology in parrots. Mov Disord :, 2022. Pubmed reference: 36086934. DOI: 10.1002/mds.29211.

Edit History


  • Created by Imke Tammen2 on 13 Sep 2022
  • Changed by Imke Tammen2 on 13 Sep 2022