CREBBP 基因突变所致Rubinstein-Taybi 综合征1例

Rubinstein-Taybi 综合征(Rubinstein-Taybi syndrome，RSTS) 又称宽拇指巨趾综合征(broad thumb-great toesyndrome)、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。

CREBBP gene mutation in an infant with Rubinstein-Taybi syndrome

Rubinstein-Taybi syndrome (RSTS), also known as broad thumb-great toe syndrome orbroad digits syndrome, is a rare autosomal dominant genetic disease. The main features ofthe patients are craniofacial dysmorphisms, skeletal malformations, and delay of growth andpsychomotor development. In this case, the child has a typical RSTS specific face andgrowth retardation, with atypical indirect inguinalhemia. A heterozygous mutation, C. 4492C>T (p. Arg1498Ter), was found in the exon of CREBBP gene by gene sequencing. It was anonsense mutation, which leads to the premature termination of peptide synthesis. Themutation was not observed in the child’s parents, which may be a de Novo mutation. Thedisease is lack of effective therapy so far.