Tatton-Brown-Rahman syndrome due to 2p23 microdeletion

Am J Med Genet A. 2016 May;170A(5):1339-42. doi: 10.1002/ajmg.a.37588. Epub 2016 Feb 11.


Tatton-Brown-Rahman syndrome is a new overgrowth syndrome due to DNMT3A (DNA cytosine 5 methyltransferase 3A) mutations. Mutation carriers show a distinctive facial appearance, intellectual disability, and increased height. We report a patient with overgrowth who showed submicroscopic deletion of chromosome 2p23 including DNMT3A. The deletion was detected by array-CGH. He showed moderate ID and distinctive facial gestalt. His clinical features were consistent with those of Tatton-Brown-Rahman syndrome. We suggest that 2p23 microdeletion including DNMT3A may cause similar symptoms in patients with DNMT3A mutations and should be considered in patients with overgrowth.

Keywords: DNMT3A; Tatton-Brown-Rahman syndrome; overgrowth syndrome.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics
  • Child, Preschool
  • Chromosome Deletion
  • Chromosomes, Human, Pair 2 / genetics*
  • Comparative Genomic Hybridization
  • DNA (Cytosine-5-)-Methyltransferases / genetics*
  • DNA Methyltransferase 3A
  • Face / physiopathology
  • Gene Deletion
  • Growth Disorders / genetics*
  • Growth Disorders / physiopathology
  • Humans
  • Intellectual Disability / genetics*
  • Intellectual Disability / physiopathology
  • Male
  • Mutation


  • DNMT3A protein, human
  • DNA (Cytosine-5-)-Methyltransferases
  • DNA Methyltransferase 3A