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

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 219080 (trait) , 139320 (gene)

Links to MONDO diseases: No links.

Mendelian trait/disorder: unknown

Mode of inheritance: Somatic mutation

Considered a defect: yes

Year key variant first reported: 2013

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.

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Associated gene: