Kaya-Barakat-Masson syndrome (KABAMAS) is a recently identified neurodevelopmental disorder characterized by severe global developmental delay, epilepsy, movement disorder, and microcephaly. It has been reported that mutations in YIF1B cause this syndrome. YIF1B encodes a trafficking protein involved in anterograde traffic from the endoplasmic reticulum to the cell membrane, and in Golgi apparatus morphology.
AlMuhaizea M, AlMass R, AlHargan A, AlBader A, Medico Salsench E, Howaidi J, Ihinger J, Karachunski P, Begtrup A, Segura Castell M, Bauer P, Bertoli-Avella A, Kaya IH, AlSufayan J, AlQuait L, Chedrawi A, Arold ST, Colak D, Barakat TS, Kaya N
タイトル
Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy.
