Article
The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies.
American journal of medical genetics. Part A - 1 Nov 2017
Shen Wei, Heeley Jennifer M, Carlston Colleen M, Acuna-Hidalgo Rocio, Nillesen Willy M, Dent Karin M, Douglas Ganka V, Levine Kara L, Bayrak-Toydemir Pinar, Marcelis Carlo L, Shinawi Marwan, Carey John C
Abstract excerpt
De novo, germline variants in DNMT3A cause Tatton-Brown-Rahman syndrome (TBRS). This condition is characterized by overgrowth, distinctive facial appearance, and intellectual disability. Somatic DNMT3A variants frequently occur in hematologic malignances, particularly acute myeloid leukemia. The Arg882 residue is the most common site of somatic DNMT3A variants, and has also been altered in patients with TBRS....
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