Carey-Fineman-Ziter syndrome (CFZS) is a rare multiple congenital anomalies syndrome defined by a combination of Pierre Robin syndrome and Moebius syndrome, associated with hypotonia and various other malformations. Pierre Robin syndrome is characterized by a triad of micrognathia, glossoptosis and a U-shaped cleft palate. Moebius syndrome is characterized by congenital palsy of the 6th and 7th cranial nerves. It has been reported that autosomal recessive mutations in MYMK cause CFZS. Myomaker, encoded by MYMK, is expressed on the cell surface of myoblasts during fusion. Fusion of myoblasts is essential for the formation of multi-nucleated muscle fibres.
Verloes A, Bitoun P, Heuskin A, Amrom D, van de Broeck H, Nikkel SM, Chudley AE, Prasad AN, Rusu C, Covic M, Toutain A, Moraine C, Parisi MA, Patton M, Martin JJ, Van Thienen MN
タイトル
Mobius sequence, Robin complex, and hypotonia: severe expression of brainstem disruption spectrum versus Carey-Fineman-Ziter syndrome.
Ramirez-Martinez A, Zhang Y, van den Boogaard MJ, McAnally JR, Rodriguez-Caycedo C, Chai AC, Chemello F, Massink MP, Cuppen I, Elferink MG, van Es RJ, Janssen NG, Walraven-van Oijen LP, Liu N, Bassel-Duby R, van Jaarsveld RH, Olson EN
タイトル
Impaired activity of the fusogenic micropeptide Myomixer causes myopathy resembling Carey-Fineman-Ziter syndrome.