Neurocardiofaciodigital syndrome (NCFD) is a new multiple congenital anomalies syndrome characterized by severe developmental delay, variable brain anomalies, congenital heart defects, dysmorphic facial features, and a distinctive type of synpolydactyly. It has been reported that mutations in MAPKAPK5 cause this syndrome. MAPKAPK5 is an essential enzyme for diverse cellular processes.
Horn D, Fernandez-Nunez E, Gomez-Carmona R, Rivera-Barahona A, Nevado J, Schwartzmann S, Ehmke N, Lapunzina P, Otaify GA, Temtamy S, Aglan M, Boschann F, Ruiz-Perez VL
タイトル
Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly.
