Case report of Bainbridge-Ropers syndrome caused by ASXL3 mutation / 中华实用儿科临床杂志

ABSTRACT

The clinical data of a child with Bainbridge-Ropers syndrome in Qingdao Women and Children′s Hospital was retrospectively analyzed.A 26-day old female presented with no weight gain, more sleep, mild feeding difficulty and low muscle tension.A novel nonsense mutation (c.3464c > A) was found in ASXL3 gene through whole exon sequencing, namely a pathogenic mutation, and has not been reported at home and abroad.At the age of 6 months, special facial features were obvious, with claw-shaped hands and bilateral wrists deviated to ulnar side.Follow-up revealed that psychomotor development is retarded.