CREBBP基因突变致Rubinstein-Taybi综合征1例

Rubinstein-Taybi syndrome induced by CREBBP gene mutation:A case report

目的研究Rubinstein-Taybi综合征(RSTS)的临床表现及遗传学特征。方法回顾分析1例经基因检测最终确诊为RSTS患儿的临床资料并复习相关文献。结果患儿女,1月婴儿,具有头发浓密,额部、颈部毛细血管畸形、双眼异常(外观:弓拱形浓眉,眼距增宽,内眦赘皮,外下斜眼裂;眼部见视盘缺失,视神经囊状增粗)、拇指(趾)宽大畸形等疑似RSTS临床症状,经全外显子基因测序显示CREBBP(NM_004380)基因存在c.4735C>T杂合突变,为无义变异,该突变经ACMG评定为致病,且该突变尚未见报道。结论RSTS主要表现为特殊面部畸形、肢端宽大畸形等,易合并眼部视网膜功能障碍等并发症,且患肿瘤风险性增加等,CREBBP和EP300基因为常见致病基因,可借助外显子基因测序协助诊断。

Objective To study the clinical manifestations and genetic characteristics of Rubinstein-Taybi syndrome(RSTS).Methods The clinical data of a child with RSTS who was finally diagnosed by gene detection was retrospectively analyzed,and the relevant literature was reviewed.Results The children,a 1-month-old infant,had the clinical symptoms of suspected RSTS,such as thick hair,capillary malformation in the forehead and neck,binocular abnormalities(appearance:arched thick eyebrow,wide eye distance,epicanthus,exotropia;loss of optic disc and saccular thickening of optic nerve in the eyes),thumb(toe)deformity,etc.the sequencing of the whole exon gene showed that CREBBP(NM_004380)gene had a c.4735C>T heterozygous mutation,which was a nonsense mutation.This mutation was assessed as a disease by ACMG and has not been reported.Conclusion RSTS is mainly presents with special facial deformities and acromegaly,which is easy to be complicated with ocular retinal dysfunction and increased risk of tumor.CREBBP and EP300 genes are common pathogenic genes,which can be diagnosed with the help of exon gene sequencing.