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OMIA 001879-9615 : Cystinuria, type II - A in Canis lupus familiaris

Possibly relevant human trait(s) and/or gene(s) (MIM number): 220100

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Dominant

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2013

Cross-species summary: This entry has been created in line with the new expanded classification system for canine cystinuria suggested by Brons et al. (2013): "type I cystinuria when the disease shows autosomal recessive inheritance, type II when it shows autosomal dominant inheritance, and type III for sex-limited inheritance. . . . Involvement of the SLC3A1 gene is indicated by adding A, and similarly B indicates mutations in SLC7A9".

Inheritance: Brons et al. (2013) provided evidence consistent with autosomal dominant inheritance.

Molecular basis: Using the direct candidate gene strategy, based on clinical signs, Brons et al. (2013) identified "in-frame 6 bp deletion removing 2 of the 3 adjacent threonine residues in exon 6 of the SLC3A1 gene" (c.1095_1100del; p.Thr366_Thr367del) as causal in Australian Cattle Dogs.

Clinical features: As summarised by Brons et al. (2013), cystinuria type II - A is characterised by: present in males and females; not androgen-dependent; COLA [μmol/g creatinine (normal ≤500)] ≥8,000 in homozygotes and ≥3,000 in heterozygotes.

Breed: Australian Cattle Dog.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
SLC3A1 solute carrier family 3 (amino acid transporter heavy chain), member 1 Canis lupus familiaris 10 NC_051814.1 (47580243..47618780) SLC3A1 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.

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
Australian Cattle Dog Cystinuria, type II - A SLC3A1 deletion, small (<=20) c.1095_1100del p.Thr366_Thr367del 2013 24001348
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Reference


2013 Brons, A.K., Henthorn, P.S., Raj, K., Fitzgerald, C.A., Liu, J., Sewell, A.C., Giger, U. :
SLC3A1 and SLC7A9 mutations in autosomal recessive or dominant canine cystinuria: a new classification system. J Vet Intern Med 27:1400-8, 2013. Pubmed reference: 24001348. DOI: 10.1111/jvim.12176.

Edit History


  • Created by Frank Nicholas on 06 Sep 2013
  • Changed by Frank Nicholas on 06 Sep 2013