Soonchunhyang Med Sci.  2023 Jun;29(1):26-28. 10.15746/sms.23.007.

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

• Kim ML
• Lee J

• KMID: 2543403
• DOI: http://doi.org/10.15746/sms.23.007

Abstract

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

Keyword

Tatton-Brown-Rahman syndrome; Clinical exome sequencing; DNA methyltransferase 3A; Hemihypertrophy; Case report