Categories: Endocrine / exocrine gland phene (incl mammary gland)

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 219080 (trait) , 139320 (gene)

Single-gene trait/disorder: unknown

Mode of inheritance: Somatic mutation

Disease-related: yes

Year key variant first reported: 2013

Cross-species summary: Renamed from 'ACTH-independent adrenal Cushing syndrome, somatic' based on ALIVE recommendations (PMID:40872711), with the following definiton:  "Hypercortisolism due to unregulated cortisol secretion by the adrenal cortex. This is generally associated with adrenal neoplasia or hyperplasia." 

Species-specific name: adrenocortical tumour

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." IT IS IMPORTANT TO NOTE THAT THIS IS UNDERSTOOD TO BE A SOMATIC MUTATION, WHICH MEANS THAT THE VARIANT IS NOT INHERITED AND WILL NOT BE PASSED ON TO OFFSPRING.

Associated gene: