Tatton-Brown-Rahman syndrome

Definition

Tatton-Brown-Rahman syndrome (TBRS) is a recently identified form of overgrowth syndrome, characterized by intellectual disabilities and facial feature. Mutations in the DNA methyltransferase gene DNMT3A cause TBRS. DNA methylation plays a critical role in both embryonic development and tumorigenesis.

References:

[1]. Katrina Tatton-Brown, et al. Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability. Nat Genet. 2014 Apr;46(4):385-8. [Content Brief]

[2]. Rika Kosaki, et al. Acute myeloid leukemia-associated DNMT3A p.Arg882His mutation in a patient with Tatton-Brown-Rahman overgrowth syndrome as a constitutional mutation. Am J Med Genet A. 2017 Jan;173(1):250-253. [Content Brief]

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