OMIA 001776-9685 : Dihydropyrimidinase deficiency in Felis catus

Possibly relevant human trait(s) and/or gene(s) (MIM number): 222748

Mendelian trait/disorder: unknown

Considered a defect: 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.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
DPYS dihydropyrimidinase Felis catus F2 NC_018740.3 (52132168..52051226) DPYS Homologene, Ensembl, NCBI gene

Variants

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Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Dihydropyrimidinase deficiency DPYS missense c.1303G>A p.G435R 2012 23430934

Reference


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.

Edit History


  • Created by Frank Nicholas on 15 Apr 2013
  • Changed by Frank Nicholas on 15 Apr 2013