Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 179, Issue 7, Pages 1357-1361Publisher
WILEY
DOI: 10.1002/ajmg.a.61180
Keywords
medulloblastoma; overgrowth intellectual disability; Tatton-Brown-Rahman syndrome
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DNMT3A codes for a DNA methyl transferase enzyme that plays a central role embryogenesis. Somatic mutations in this gene have been associated with tumorigenesis and are associated with a number of cancers. The recently described Tatton-Brown-Rahman syndrome (TBRS) is due to heterozygous germline mutations in the DNMT3A gene. So far, only one case of hematological malignancy associated with TBRS have been reported. Here, we describe the first case presenting with TBRS and medulloblastoma. We also discuss the associations between mutations in DNMT3A found in TBRS, AML, and medulloblastoma.
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