Tatton-Brown-Rahman Syndrome: A Report of a Case with a Novel <i>DNMT3A</i> Mutation Presented Hemihypertrophy

Tatton-Brown-Rahman syndrome (TBRS) is a relatively new congenital anomaly manifesting overgrowth and broad spectrum of intellectual disability. It caused by pathogenic variants in the DNA methyltransferase 3 alpha (<i>DNMT3A</i>) gene, mainly <i>de novo</i> inheritance. Overgrowth, mild-to-severe disability, other clinical features TBRS may affect quality life patients their family members. Thus, early diagnosis genetic testing management these symptoms critical. We report case 17-year-old male patient with hemihypertrophy who suffered back pain since school age, diagnosed TBRS-identified <i>DNMT3A</i> gene mutation.