OMIA 001880-9615 : Cystinuria, type II - B 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: The name of 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 "a single base missense mutation (c.964G>A) [in SLC7A9] changing the small hydrophobic glycine residue to the larger, charged basic amino acid arginine (p.Gly322Arg) in transmembrane domain 9 of the light subunit bo,+AT" as causal in Miniature Pinschers.

Clinical features: As summarised by Brons et al. (2013), cystinuria type II - B is characterised by: occurs in males and females; not androgen-dependent; COLA [μmol/g creatinine (normal ≤500)] ≥ 700 in heterozygotes.

Breed: Miniature Pinscher.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
SLC7A9 solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9 Canis lupus familiaris 1 NC_006583.3 (119205833..119229054) SLC7A9 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
Miniature Pinscher Cystinuria, type II - B SLC7A9 missense c.964G>A p.G322R 2013 24001348

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