480 The spectrum of oligogenic variants in the RAS pathway in a PHACE cohort

Abstract

The acronym PHACE (posterior fossa anomalies, infantile hemangiomas, arterial anomalies, cardiac defects and eye anomalies) was coined to describe the features of an uncommon sporadic condition with a vascular tumor (infantile hemangioma), developmental and progressive vascular abnormalities. Here, we report the findings of our analysis of whole genome sequencing of germline samples from 98 unrelated trios in which the probands had PHACE. Two coding variants, RASA3–p.Val85Met and THBS2–p.Asp859Asn, were predicted to be pathogenic by numerous algorithms.