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


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2019-11-04

AUTHORS

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

ABSTRACT

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 lymphoid cancers. Germline gain-of-function variants in this gene have been recently implicated in microcephalic dwarfism. Common clinical features of patients with TBRS include tall stature, macrocephaly, intellectual disability (ID), and a distinctive facial appearance. Differential diagnosis of TBRS comprises Sotos, Weaver, and Malan Syndromes. The majority of these disorders present other clinical features with a high clinical overlap, making necessary a molecular confirmation of the clinical diagnosis. We here describe seven new patients with variants in DNMT3A, four of them with neuropsychiatric disorders, including schizophrenia and psychotic behavior. In addition, one of the patients has developed a brain tumor in adulthood. This patient has also cerebral atrophy, aggressive behavior, ID, and abnormal facial features. Clinical evaluation of this group of patients should include a complete neuropsychiatric assessment together with psychological support in order to detect and manage abnormal behaviors such as aggressiveness, impulsivity, and attention deficit-hyperactivity disorder. TBRS should be suspected in patients with overgrowth, ID, tall stature, and macrocephaly, who also have some neuropsychiatric disorders without any genetic defects in the commonest overgrowth disorders. Molecular confirmation in these patients is mandatory. More... »

PAGES

469-479

Journal

TITLE

European Journal of Human Genetics

ISSUE

4

VOLUME

28

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s41431-019-0485-3

DOI

http://dx.doi.org/10.1038/s41431-019-0485-3

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1122300508

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/31685998


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