Megalencephaly-polydactyly syndrome (MPAPA) is a novel syndrome with multiple congenital anomalies, including megalencephaly, ventriculomegaly, postaxial polydactyly, distinctive facial features, and neuroblastoma during infancy. It has been reported that gain-of-function mutations in MYCN cause this syndrome. MYCN is a member of the MYC proto-oncogene family, and 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 [DS:H00510], characterized by microcephaly.
Kato K, Miya F, Hamada N, Negishi Y, Narumi-Kishimoto Y, Ozawa H, Ito H, Hori I, Hattori A, Okamoto N, Kato M, Tsunoda T, Kanemura Y, Kosaki K, Takahashi Y, Nagata KI, Saitoh S
タイトル
MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome.
