ASXL3基因突变致Bainbridge-Ropers综合征1例

Case report of Bainbridge-Ropers syndrome caused by ASXL3 mutation

对青岛市妇女儿童医院收治的1例Bainbridge-Ropers综合征患儿的临床资料进行回顾性分析。患儿,女,26 d,表现为体质量不增、睡眠多、轻度喂养困难、肌张力低下,全外显子测序发现ASXL3基因存在新发杂合无义突变(c.3464C>A),为致病突变,国内外尚未见报道。6月龄特殊面容明显,爪形手、双侧手腕向尺侧偏斜,随访发现精神运动发育落后。

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.