Rubinstein-Taybi syndrome (RSTS), also known as broad thumb-great toe syndrome or broad digits syndrome, is a rare autosomal dominant genetic disease. The main features of the patients are craniofacial dysmorphisms, skeletal malformations, and delay of growth and psychomotor development. In this case, the child has a typical RSTS specific face and growth retardation, with atypical indirect inguinalhemia. A heterozygous mutation, C. 4492 C>T (p. Arg1498Ter), was found in the exon of CREBBP gene by gene sequencing. It was a nonsense mutation, which leads to the premature termination of peptide synthesis. The mutation was not observed in the child's parents, which may be a de Novo mutation. The disease is lack of effective therapy so far.
Rubinstein-Taybi综合征(Rubinstein-Taybi syndrome，RSTS) 又称宽拇指巨趾综合征(broad thumb-great toe syndrome)、巨指(趾)综合征(broad digits syndrome)，是一类罕见的常染色体显性遗传病。患者的主要特征为颅面畸形、骨骼畸形、生长延迟和精神及运动发育迟缓。本例患儿具有典型的RSTS特殊面容及生长迟滞，合并不典型的腹股沟斜疝。二代测序技术基因结果显示：患儿的16号染色体CREBBP基因外显子上存在1个杂合突变位点c.4492C>T(p. Arg1498Ter)，且为无义突变，使得肽链合成提前终止。受检者父母未发现上述变异，该变异可能为新生突变。本病目前尚无特异性治疗方法。.
Keywords: CREBBP gene; Rubinstein-Taybi syndrome; de Novo mutation; inguinal hernia; the two generation sequencing technology.