MIRAGE syndrome, a multisystem disorder, results from heterozygous gain-of-function mutations in SAMD9, which encodes a growth suppressor, located on chromosome 7. Somatic changes involving loss-of-function mutations of the altered SAMD9 allele or loss of chromosome 7 act as phenotypic modifiers, providing a typical example of somatic mutation and selection process.
Adrenal Insufficiency Genetic Diseases, Inborn