Novel Nonsense Mutation in ASXL3 causing Bainbridge-Ropers Syndrome.

BACKGROUND:Bainbridge-Ropers syndrome is a rare autosomal dominant genetic disorder. CASE CHARACTERISTICS:A 26-day-old neonate presented with feeding difficulties, excessive sleeping, and hirsutism over forehead and lumbosacral skin. OUTCOME:Whole-exome sequencing identified a novel nonsense mutation. MESSAGE:We report a novel mutation in a Chinese neonate with Bainbridge-Ropers syndrome.