OMIA:002536-9615 : Cataract, FYCO1-related in Canis lupus familiaris
Categories: Vision / eye phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 610019 (trait) , 607182 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2022
Species-specific description: Other forms of inherited cataract have been been described in other breeds, for examples see 'OMIA001758-9615 - Cataract, early onset, HSF4-related' and 'OMIA 000168-9615 -Cataract, generic'.
Inheritance: Rudd Garces et al. (2022) "investigated an inbred family of Wirehaired Pointing Griffon dogs in which three offspring were affected by juvenile cataract. The pedigree suggested monogenic autosomal recessive inheritance of the trait."
Molecular basis: Rudd Garces et al. (2022): "Whole-genome sequencing of an affected dog revealed 12 protein-changing variants that were not present in 566 control genomes, of which two were located in functional candidate genes, FYCO1 and CRYGB. Targeted genotyping of both variants in the investigated family excluded CRYGB and revealed perfect co-segregation of the FYCO1 variant with the juvenile cataract phenotype. This variant, FYCO1:c.2024delG, represents a 1 bp frameshift deletion predicted to truncate ~50% of the open reading frame p.(Ser675Thrfs*5). FYCO1 encodes the FYVE and coiled-coil domain autophagy adaptor 1, a known regulator of lens autophagy, which is required for the normal homeostasis in the eye."
Clinical features: Rudd Garces et al. (2022): "A breeder noticed signs of body imbalance in the affected puppies and difficulties following the other littermates at 8 weeks of age. Private clinical and ophthalmological examinations revealed the presence of opaque spots in the eyes and blindness, corresponding to signs of juvenile cataract".
Breed: Wirehaired Pointing Griffon.
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|FYCO1||FYVE and coiled-coil domain containing 1||Canis lupus familiaris||20||NC_051824.1 (43002992..43076845)||FYCO1||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|
|1436||Wirehaired Pointing Griffon||Juvenile cataract||FYCO1||deletion, small (<=20)||Naturally occurring variant||UU_Cfam_GSD_1.0||20||g.42952995del||c.2024delG||p.(S675Tfs*5)||XM_038566669.1; XP_038422597.1||2022||35205377|
|2022||Rudd Garces, G., Christen, M., Loechel, R., Jagannathan, V., Leeb, T. :|
|FYCO1 frameshift deletion in Wirehaired Pointing Griffon dogs with juvenile cataract. Genes (Basel) 13:334, 2022. Pubmed reference: 35205377 . DOI: 10.3390/genes13020334.|
- Created by Frank Nicholas on 10 Mar 2022
- Changed by Frank Nicholas on 10 Mar 2022
- Changed by Imke Tammen2 on 18 May 2022