Article
Ritscher-Schinzel syndrome can be characterized as an endosomal recyclinopathy.
Science translational medicine - 2 Jul 2025
Kato Kohji, Nishio Yosuke, McMillan Kirsty J, Al-Maraghi Aljazi, Kroes Hester Y, Abdel-Hamid Mohamed S, Jones Emma, Shaw Shrestha, Yoshida Aya, Otsuji Shiomi, Murofushi Yuka, Aamer Waleed, Bhat Ajaz A, AlRayahi Jehan, Al-Shabeeb Akil Ammira S, Aliyev Elbay, van Binsbergen Ellen, Janssen Etienne J, Mehrin Kazi Mahnaz, Oishi Hisashi, Kobayashi Ryosuke, Horii Takuro, Hatada Izuho, Saito Akihiko, Hattori Mitsuharu, Kawano Yoshihiko, Lewis Philip A, Heesom Kate J, Takarada Takeshi, Sawamoto Kazunobu, Matsushita Masaki, Ogi Tomoo, Butkovic Rebeka, Danson Chris, Wilkinson Kevin A, Fakhro Khalid A, Zaki Maha S, Saitoh Shinji, Cullen Peter J
Abstract excerpt
Ritscher-Schinzel syndrome (RSS) is a congenital malformation syndrome characterized by cerebellar, cardiac, and craniofacial malformations and phenotypes associated with liver, skeletal, and kidney dysfunction. The genetic cause of RSS remains to be fully defined, and limited information is available regarding the root cause of the multiple tissue phenotypes. Causative mutations in the Commander multiprotein...
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