Novel EP300 and NSD1 variants in Chinese pediatric patients with Rubinstein-Taybi syndrome: evidence for oligogenic inheritance and phenotypic expansion.

Abstract excerpt

BACKGROUND: Rubinstein–Taybi syndrome (RSTS) is an autosomal-dominant neurodevelopmental disorder caused by heterozygous loss-of-function variants in CREBBP or EP300. EP300-related cases often show milder clinical features, but their full phenotypic spectrum and the potential role of oligogenic inheritance remain unclear. METHODS: We retrospectively studied seven Chinese pediatric RSTS patients. Genomic analyses...

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