OMIA:001776-9685 : Dihydropyrimidinase deficiency in Felis catus
Categories: Homeostasis / metabolism phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 222748 (trait) , 613326 (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: 2012
Species-specific symbol: DHP deficiency
History: Chang et al. (2012) reported the first feline case.
Inheritance: Because only one case has been reported, there are no segregation data. However, since the disorder has been shown to be due to an enzyme deficiency, it is almost certain to have autosomal recessive inheritance.
Molecular basis: On the strength of the clinical evidence implying a deficiency of the enzyme dihydropyrimidinase (see section on Clinical features), Chang et al. (2012) used the direct candidate gene approach and sequenced the DPYS gene encoding this enzyme, in the affected cat, showing that "the cat was homozygous for the missense mutation c.1303G>A (p.G435R) in exon 8, which corresponds to a known mutation in a human patient with DHP deficiency."
Clinical features: As reported by Chang et al. (2012), "A gas chromatographic–mass spectrometric analysis of urinary metabolic substances showed the presence of large amounts of dihydrouracil and dihydrothymine and moderate amounts of uracil and thymine, suggesting DHP deficiency".
Pathology: Genotyping 1000 Japanese cats for this mutation revealed no copies of the allele, suggesting that it must be a relatively new mutation.
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|DPYS||dihydropyrimidinase||Felis catus||F2||NC_058385.1 (49982054..49900798)||DPYS||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|
|125||Dihydropyrimidinase deficiency||DPYS||missense||Naturally occurring variant||Felis_catus_9.0||F2||g.52064442C>T||c.1303G>A||p.(G435R)||XM_023248231.1; XP_023103999.1||2012||23430934||Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.|
|2012||Chang, H.S., Shibata, T., Arai, S., Zhang, C., Yabuki, A., Mitani, S., Higo, T., Sunagawa, K., Mizukami, K., Yamato, O. :|
|Dihydropyrimidinase deficiency: the first feline case of dihydropyrimidinuria with clinical and molecular findings. JIMD Rep 6:21-6, 2012. Pubmed reference: 23430934 . DOI: 10.1007/8904_2012_139.|
- Created by Frank Nicholas on 15 Apr 2013
- Changed by Frank Nicholas on 15 Apr 2013
- Changed by Frank Nicholas on 15 May 2020