Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome

The Retriever subunit VPS35L is the third responsible gene for Ritscher-Schinzel syndrome (RSS) after WASHC5 and CCDC22. To date, only one pair of siblings have been reported and their condition was significantly more severe than typical RSS. This report expands the clinical spectrum of patients with pathogenic VPS35L variants, and identifies both overlapping and distinctive features compared with patients with CCC and WASH complex dysfunction. We also demonstrate a possible molecular mechanism for aberrant lipid metabolism observed in these patients. This study contributes to the establishment of a disease concept for VPS35L-associated RSS. (By Dr. Shiomi Otsuji, https://jmg.bmj.com/content/early/2022/09/15/jmg-2022-108602 )

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