Article
SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7.
Nature genetics - 1 Jul 2016
Narumi Satoshi, Amano Naoko, Ishii Tomohiro, Katsumata Noriyuki, Muroya Koji, Adachi Masanori, Toyoshima Katsuaki, Tanaka Yukichi, Fukuzawa Ryuji, Miyako Kenichi, Kinjo Saori, Ohga Shouichi, Ihara Kenji, Inoue Hirosuke, Kinjo Tadamune, Hara Toshiro, Kohno Miyuki, Yamada Shiro, Urano Hironaka, Kitagawa Yosuke, Tsugawa Koji, Higa Asumi, Miyawaki Masakazu, Okutani Takahiro, Kizaki Zenro, Hamada Hiroyuki, Kihara Minako, Shiga Kentaro, Yamaguchi Tetsuya, Kenmochi Manabu, Kitajima Hiroyuki, Fukami Maki, Shimizu Atsushi, Kudoh Jun, Shibata Shinsuke, Okano Hideyuki, Miyake Noriko, Matsumoto Naomichi, Hasegawa Tomonobu
Abstract excerpt
Adrenal hypoplasia is a rare, life-threatening congenital disorder. Here we define a new form of syndromic adrenal hypoplasia, which we propose to term MIRAGE (myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy) syndrome. By exome sequencing and follow-up studies, we identified 11 patients with adrenal hypoplasia and common extra-adrenal features harboring...
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