Rubinstein-Taybi syndrome in Chinese population with four novel mutations

Am J Med Genet A. 2021 Jan;185(1):267-273. doi: 10.1002/ajmg.a.61922. Epub 2020 Oct 16.

Abstract

Rubinstein-Taybi syndrome (RSTS, OMIM*180849) is a rare autosomal dominant disorder, characterized by distinctive facial features, short stature, broad and often angulated thumbs and halluces, with occasional congenital anomalies. Characteristic facial dysmorphic features include downslanting palpebral fissures, low hanging columella. RSTS is caused by pathogenic variants in two ubiquitously expressed and highly homologous genes, CREBBP (OMIM*600140) and EP300 (OMIM*600140). Clinical features were well reported especially in Caucasian ethnicity. We would like to report the clinical phenotype of RSTS in our Chinese population and highlight four novel mutations in CREBBP gene.

Keywords: Chinese; RTS; Rubinstein-Taybi syndrome.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • CREB-Binding Protein / genetics*
  • Child
  • Child, Preschool
  • China / epidemiology
  • E1A-Associated p300 Protein / genetics*
  • Female
  • Frameshift Mutation / genetics
  • Genetic Predisposition to Disease*
  • Humans
  • Infant
  • Male
  • Middle Aged
  • Mutation, Missense / genetics
  • Phenotype
  • Rubinstein-Taybi Syndrome / epidemiology
  • Rubinstein-Taybi Syndrome / genetics*
  • Rubinstein-Taybi Syndrome / pathology
  • Young Adult

Substances

  • CREB-Binding Protein
  • CREBBP protein, human
  • E1A-Associated p300 Protein
  • EP300 protein, human