Article
Gain-of-function MYCN causes a megalencephaly-polydactyly syndrome manifesting mirror phenotypes of Feingold syndrome.
HGG advances - 12 Oct 2023
Nishio Yosuke, Kato Kohji, Tran Mau-Them Frederic, Futagawa Hiroshi, Quélin Chloé, Masuda Saori, Vitobello Antonio, Otsuji Shiomi, Shawki Hossam H, Oishi Hisashi, Thauvin-Robinet Christel, Takenouchi Toshiki, Kosaki Kenjiro, Takahashi Yoshiyuki, Saitoh Shinji
Abstract excerpt
MYCN, a member of the MYC proto-oncogene family, regulates cell growth and proliferation. Somatic mutations of MYCN are identified in various tumors, and germline loss-of-function variants are responsible for Feingold syndrome, characterized by microcephaly. In contrast, one megalencephalic patient with a gain-of-function variant in MYCN, p.Thr58Met, has been reported, and additional patients and...
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