Novel Nonsense Mutation in ASXL3 causing Bainbridge-Ropers Syndrome

ABSTRACT

Background:Bainbridge-Ropers syndrome is a rare autosomal dominant genetic disorder.Case characteristics A 26-day-old neonate presented with feeding difficulties, excessivesleeping, and hirsutism over forehead and lumbosacral skin. Outcome: Whole-exomesequencing identified a novel nonsensemutation. Message We report a novel mutation ina Chinese neonate with Bainbridge-Ropers syndrome.