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.
The spectrum of DNMT3A variants in Tatton–Brown–Rahman syndrome overlaps with that in hematologic malignancies
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Media type:
E-Article
Title:
The spectrum of DNMT3A variants in Tatton–Brown–Rahman syndrome overlaps with that in hematologic malignancies
Contributor:
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.
Published:
Wiley, 2017
Published in:
American Journal of Medical Genetics Part A, 173 (2017) 11, Seite 3022-3028
Description:
<jats:sec><jats:label /><jats:p>De novo, germline variants in <jats:italic>DNMT3A</jats:italic> cause Tatton–Brown–Rahman syndrome (TBRS). This condition is characterized by overgrowth, distinctive facial appearance, and intellectual disability. Somatic <jats:italic>DNMT3A</jats:italic> variants frequently occur in hematologic malignances, particularly acute myeloid leukemia. The Arg882 residue is the most common site of somatic <jats:italic>DNMT3A</jats:italic> variants, and has also been altered in patients with TBRS. Here we present three additional patients with this disorder attributed to <jats:italic>DNMT3A</jats:italic> germline variants that disrupt the Arg882 codon, suggesting that this codon may be a germline mutation hotspot in this disorder. Furthermore, based on the investigation of previously reported variants in patients with TBRS, we found overlap in the spectrum of <jats:italic>DNMT3A</jats:italic> variants observed in this disorder and somatic variants in hematological malignancies.</jats:p></jats:sec>