Luo-Schoch-Yamamoto syndrome

Definition:

Luo-Schoch-Yamamoto syndrome (LUSYAM) is a novel neurodevelopmental disorder caused by mutations in RNF2. LUSYAM is characterized by global developmental delay, severe intellectual disabilities, behavioral problems, seizures, feeding difficulties and dysmorphic features. RNF2 encodes a catalytic subunit of the polycomb repressive complex 1 (PRC1).

References:

[1]. Xi Luo, et al. Rare deleterious de novo missense variants in Rnf2/Ring2 are associated with a neurodevelopmental disorder with unique clinical features. Hum Mol Genet. 2021 Jun 26;30(14):1283-1292. [Content Brief]

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