Tatton-Brown-Rahman syndrome due to 2p23 microdeletion
Nobuhiko Okamoto1, Yasuhisa Toribe2, Keiko Shimojima3
1Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan.
Abstract:
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.
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