Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients.

doi:10.1038/s41431-019-0485-3

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Article

Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients.

European journal of human genetics : EJHG - 1 Apr 2020

Tenorio Jair, Alarcón Pablo, Arias Pedro, Dapía Irene, García-Miñaur Sixto, Palomares Bralo María, Campistol Jaume, Climent Salvador, Valenzuela Irene, Ramos Sergio, Monseny Antonio Martínez, Grondona Fermina López, Botet Javier, Serrano Mercedes, Solís Mario, Santos-Simarro Fernando, Álvarez Sara, Teixidó-Tura Gisela, Fernández Jaén Alberto, Gordo Gema, Bardón Rivera María Belén, Nevado Julián, Hernández Alicia, Cigudosa Juan C, Ruiz-Pérez Víctor L, Tizzano Eduardo F, Lapunzina Pablo

Abstract excerpt

Tatton-Brown-Rahman (TBRS) syndrome is a recently described overgrowth syndrome caused by loss of function variants in the DNMT3A gene. This gene encodes for a DNA methyltransferase 3 alpha, which is involved in epigenetic regulation, especially during embryonic development. Somatic variants in DNMT3A have been widely studied in different types of tumors, including acute myeloid leukemia, hematopoietic, and...

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PMID: 31685998
DOI: 10.1038/s41431-019-0485-3
PMCID: PMC7080728

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