OMIA 001937-9615 : ACTH-independent adrenal Cushing syndrome, somatic in Canis lupus familiaris

Possibly relevant human trait(s) and/or gene(s) (MIM number): 615830

Mendelian trait/disorder: unknown

Considered a defect: yes

Year key variant first reported: 2013

Molecular basis: By sequencing likely candidate genes in 44 cortisol-secreting adrenocortical tumors (AT), Kool et al. (2013) reported "Approximately one-third of all ATs harbored an activating mutation of GNAS. Missense mutations, known to result in constitutive activation, were present in codon 201 in 11 ATs, in codon 203 (1 AT), and in codon 227 (3 ATs). No functional mutations were found in MC2R and PRKAR1A." The authors went on to state "To the best of our knowledge, this is the first report of potentially causative mutations in canine cortisol-secreting ATs."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
GNAS GNAS complex locus Canis lupus familiaris 24 NC_006606.3 (43643409..43658641) GNAS Homologene, Ensembl, NCBI gene

Reference


2013 Kool, M.M., Galac, S., Spandauw, C.G., Kooistra, H.S., Mol, J.A. :
Activating mutations of GNAS in canine cortisol-secreting adrenocortical tumors. J Vet Intern Med 27:1486-92, 2013. Pubmed reference: 24112376. DOI: 10.1111/jvim.12194.

Edit History


  • Created by Frank Nicholas on 29 Oct 2014
  • Changed by Frank Nicholas on 29 Oct 2014
  • Changed by Frank Nicholas on 21 Jan 2018