Case report of Bainbridge-Ropers syndrome caused by ASXL3 mutation
10.3760/cma.j.cn101070-20190606-00505
- VernacularTitle:ASXL3基因突变致Bainbridge-Ropers综合征1例
- Author:
Lingyan QIAO
1
;
Juan GE
;
Yusheng LIU
;
Tang LI
Author Information
1. 青岛市妇女儿童医院内分泌代谢科 266000
- From:
Chinese Journal of Applied Clinical Pediatrics
2020;35(23):1833-1834
- CountryChina
- Language:Chinese
-
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.
