ISSN 1674-3865  CN 21-1569/R
主管：国家卫生和计划生育委员会
主办：中国医师协会
　　　辽宁省基础医学研究所
　　　辽宁中医药大学附属医院
Chinese Pediatrics of Integrated Traditional and Western Medicine

Chinese Pediatrics of Integrated Traditional and Western Medicine ›› 2021, Vol. 13 ›› Issue (4): 332-.

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Rubinstein-Taybi syndrome: a clinical analysis of one case and literature review

This article reports the clinical features of one case of Rubinstein-Taybi syndrome caused by new mutations of the CREBBP gene and the features of CREBBP gene mutation. The patient was a two-year-old girl who presented with psychomotorretardation, large thumbs and large first toes. The whole exon sequencing showed that the CREBBP gene of the child had base deletion c.3469_3471del, p.val1157del (heterozygous), but the parents had a normal genotype, which suggested that the mutation might be a newborn mutation. Clinically, for general developmental delays, neurological diseases, and limb malformations due to unknown all causes, the whole exomesequencing technology is helpful for diagnosis, and the prognosis can be assessed based on the mutation site.   

  1. Anhui Provincial Children's Hospital, Hefei 230022,China
  • Online:2021-08-25 Published:2021-12-10

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Abstract: This article reports the clinical features of one case of Rubinstein-Taybi syndrome caused by new mutations of the CREBBP gene and the features of CREBBP gene mutation. The patient was a two-year-old girl who presented with psychomotorretardation, large thumbs and large first toes. The whole exon sequencing showed that the CREBBP gene of the child had base deletion c.3469_3471del, p.val1157del (heterozygous), but the parents had a normal genotype, which suggested that the mutation might be a newborn mutation. Clinically, for general developmental delays, neurological diseases, and limb malformations due to unknown all causes, the whole exomesequencing technology is helpful for diagnosis, and the prognosis can be assessed based on the mutation site.

Key words: Rubinstein-Taybi syndrome, CREBBP gene, Delayed development