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OMIA:002250-9615 : Succinic semialdehyde dehydrogenase deficiency in Canis lupus familiaris

Categories: Nervous system phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 271980 (trait) , 610045 (gene)

Links to MONDO diseases:

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Considered a defect: 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.

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

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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
1240 Saluki Succinic Semialdehyde Dehydrogenase Deficiency ALDH5A1 missense Naturally occurring variant CanFam3.1 35 g.22572768G>A c.866G>A p.(G288D) XM_014110599.2: c.866G>A; XP_013966074.2: p.(Gly288Asp) (Vernau et al., 2020) 2020 32887425
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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.

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