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

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 202010 (trait) , 610613 (gene)

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 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

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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
117 Adrenal hyperplasia, congenital, due to 11-beta hydroxylase deficiency CYP11B1 missense Naturally occurring variant Felis_catus_9.0 F2 g.84247412G>A c.1151G>A p.(R384Q) XM_004000154.3; XP_004000203.1 published as "a guanosine-to-adenosine mutation 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 [Parajes et al. (2010) J Clin Endocrinol Metab 95:779–788]. 2012 22827537 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
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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.
2020 Szczerbal, I., Switonski, M. :
Genetic disorders of sex development in cats: An update. Anim Reprod Sci 216:106353, 2020. Pubmed reference: 32414464. DOI: 10.1016/j.anireprosci.2020.106353.
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
  • Changed by Frank Nicholas on 15 May 2020
  • Changed by Imke Tammen2 on 22 Aug 2021