自发KDM6A剪切位点突变致歌舞伎综合征合并性早熟和矮小一例

A case of Kabuki syndrome with precocious pubertyand short stature due to novel KDM6A splice-site mutation

目的分析一例组蛋白特异性赖氨酸脱甲基酶(KDM6A)基因自发突变导致歌舞伎综合征(KS)2型患者的临床特点及致病基因,增加对疾病致病基因和临床特点的认识。方法收集患者的临床表现、生化检验及影像学资料进行分析,抽取患者及父母外周静脉血,提取基因组DNA,对全外显子基因进行测序。结果1)患儿以真性性早熟、矮小为主要临床表现。2)患者出现KS典型的面部、骨骼、皮纹异常和智力偏低表现。3)患儿及父母外周血基因全外显子测序提示,患儿存在自发KDM6A基因剪切位点突变。结论KDM6A基因突变可导致KS。本文报道了一例KS合并性早熟和矮小的病例,而性早熟和矮小与KS的相关性仍有待进一步证实。

Objective To investigate the pathogenic gene mutations and clinical characteristics of type 2 Kabuki syndrome by analyzing a patient with novel splicing KDM6A gene mutation.Methods Clinical features,laboratory data and radiologic manifestations were collected.The whole exon was sequenced.Results 1)Patient presented with typical facial,skeletal and dermatoglyphic abnormalities,and mild intellectual impairment.2)The main clinical manifestations were central precocious puberty and short stature.3)Whole exon sequencing peripheral lymphocytes of the patient and of her parents identified a denovo splicing mutation in KDM6A gene.Conclusions KDM6A mutation may cause Kabuki syndrome,central precocious puberty and dwarfism.This case expands the understanding of clinical manifestations and gene mutation in Kabuki syndrome.