OMIA 001661-9685 : Adrenal hyperplasia, congenital, due to 11-beta hydroxylase deficiency in Felis catus

Possibly relevant human trait(s) and/or gene(s) (MIM number): 202010

Mendelian trait/disorder: unknown

Considered a defect: yes

Year key variant first reported: 2012

Species-specific name: Congenital adrenal hypoplasia (CAH)

Species-specific symbol: CAH

Inheritance: Knighton (2004) reported a single cat with deficiency of 11-beta hydroxylase. Since the deficiency is due to a mutation in the gene that encodes this enzyme (see below), the disorder is almost certainly autosomal recessive.

Molecular basis: Adopting the comparative candidate-gene strategy (based on the similarity of diagnostic signs of a single affected cat with the homologous human disorder), Owens et al. (2012) sequenced the feline CYP11B1 gene (encoding 11β-hydroxylase) in that single affected cat and a healthy control cat, identifying the causal mutation as a G>A missense SNP in exon 7 "that results in an arginine to glutamine amino acid substitution; this latter mutation results in 11β-hydroxylase deficiency-associated CAH in people".

Breed: Domestic shorthair.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
CYP11B1 Felis catus - no genomic information (-..-) CYP11B1 Ensembl

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
Adrenal hyperplasia, congenital, due to 11-beta hydroxylase deficiency CYP11B1 missense G>A 2012 22827537

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.
2012 Owens, S.L., Downey, M.E., Pressler, B.M., Birkenheuer, A.J., Chandler, D.W., Scott-Moncrieff, J.C. :
Congenital adrenal hyperplasia associated with mutation in an 11β-hydroxylase-like gene in a cat. J Vet Intern Med 26:1221-6, 2012. Pubmed reference: 22827537. DOI: 10.1111/j.1939-1676.2012.00971.x.
2004 Knighton, E.L. :
Congenital adrenal hyperplasia secondary to 11beta-hydroxylase deficiency in a domestic cat. J Am Vet Med Assoc 225:238-41, 231, 2004. Pubmed reference: 15323380.

Edit History


  • Created by Frank Nicholas on 26 Oct 2011
  • Changed by Frank Nicholas on 26 Oct 2011
  • Changed by Frank Nicholas on 17 May 2013