SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7

Satoshi Narumi, Tomonobu Hasegawa and colleagues describe a new adrenal hypoplasiasyndrome termed MIRAGEthat is caused by mutations in the endosomefusion facilitator SAMD9. They find that patients with these mutations have severe growth restriction phenotypes, and they observe adaptation by aneuploidy, where there is accompanying protective loss of mutation-carrying chromosome 7.