CREBBP gene mutation in an infant with Rubinstein-Taybi syndrome

Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2020 Feb 28;45(2):198-203. doi: 10.11817/j.issn.1672-7347.2020.180770.
[Article in English, Chinese]


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.

Publication types

  • Case Reports

MeSH terms

  • CREB-Binding Protein / genetics*
  • Codon, Nonsense
  • Exons
  • Humans
  • Infant
  • Mutation
  • Rubinstein-Taybi Syndrome*


  • Codon, Nonsense
  • CREB-Binding Protein
  • CREBBP protein, human