OMIA:002250-9615 : Succinic semialdehyde dehydrogenase deficiency in Canis lupus familiaris (dog) |
Categories: Nervous system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 271980 (trait) , 610045 (gene)
Links to relevant human diseases in MONDO:
Single-gene trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2020
Cross-species summary: SSADHD
Mapping: Vernau et al. (2020): "Genome-wide association study of 7 affected and 28 normal Salukis revealed a genome-wide significantly associated region on CFA 35."
Molecular basis: Vernau et al. (2020): "Whole-genome sequencing of three confirmed cases from three different litters revealed a homozygous missense variant within the aldehyde dehydrogenase 5 family member A1 (ALDH5A1) gene (XM_014110599.2: c.866G>A; XP_013966074.2: p.(Gly288Asp)."
Clinical features: Vernau et al. (2020): "Magnetic resonance imaging showed a diffuse, marked reduction in cerebral cortical thickness, and symmetrical T2 hyperintensity in specific brain regions. Cerebral cortical atrophy with vacuolation (status spongiosus) was noted on necropsy."
Breed:
Saluki (Dog) (VBO_0201171).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| ALDH5A1 | aldehyde dehydrogenase 5 family, member A1 | Canis lupus familiaris | 35 | NC_051839.1 (22678366..22704116) | ALDH5A1 | 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 | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1240 | Saluki (Dog) | Succinic Semialdehyde Dehydrogenase Deficiency | ALDH5A1 | missense | Naturally occurring variant | CanFam3.1 | 35 | NC_006617.3:g.22572768G>A | XM_014110599.2:c.866G>A | XP_013966074.2:p.(G288D) | XM_014110599.2: c.866G>A; XP_013966074.2: p.(Gly288Asp) (Vernau et al., 2020) | 2020 | 32887425 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2020). OMIA:002250-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
| 2023 | Cocostîrc, V., Paștiu, A.I., Pusta, D.L. : |
| An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) 13:3568, 2023. Pubmed reference: 38003185. DOI: 10.3390/ani13223568. | |
| 2020 | Vernau, K.M., Struys, E., Letko, A., Woolard, K.D., Aguilar, M., Brown, E.A., Cissell, D.D., Dickinson, P.J., Shelton, G.D., Broome, M.R., Gibson, K.M., Pearl, P.L., König, F., Van Winkle, T.J., O'Brien, D., Roos, B., Matiasek, K., Jagannathan, V., Drögemüller, C., Mansour, T.A., Brown, C.T., Bannasch, D.L. : |
| A missense variant in ALDH5A1 associated with canine succinic semialdehyde dehydrogenase deficiency (SSADHD) in the Saluki dog. Genes (Basel) 11:1033, 2020. Pubmed reference: 32887425. DOI: 10.3390/genes11091033. | |
| 1987 | Luttgen, P.J., Storts, R.W. : |
| Central nervous system status spongiosus of Saluki dogs Proceedings of the 5th Annu Meet Vet med Forum, ACVIM. 841, 1987. |
Edit History
- Created by Frank Nicholas on 06 Mar 2020
- Changed by Frank Nicholas on 08 Mar 2020
- Changed by Frank Nicholas on 14 Sep 2020