Tatton-Brown–Rahman syndrome: Novel pathogenic variants and new neuroimaging findings

Jiménez de la Peña, MarRincón Pérez, IreneLópez Martín, SaraAlbert, JacoboMartín Fernández Mayoralas, DanielFernández Perrone, Ana LauraJiménez de Domingo, AnaTirado, PilarCalleja Pérez, BeatrizFernández Jaén, AlbertoEt al.2024-03-032024-03-032023Jiménez de la Peña, M., Rincón‐Pérez, I., López‐Martín, S., Albert, J., Martín Fernández‐Mayoralas, D., Fernández‐Perrone, A. L., Jiménez De Domingo, A., Tirado, P., Calleja‐Pérez, B., Porta, J., Álvarez, S., & Fernández‐Jaén, A. (2024). Tatton-Brown–Rahman syndrome: Novel pathogenic variants and new neuroimaging findings. American Journal of Medical Genetics Part A, 194(2), 211-217. https://doi.org/10.1002/ajmg.a.634341552-48251552-4833http://hdl.handle.net/11268/12714Tatton-Brown–Rahman syndrome (TBRS) or DNMT3A-overgrowth syndrome is characterized by overgrowth and intellectual disability associated with minor dysmorphic features, obesity, and behavioral problems. It is caused by variants of the DNMT3A gene. We report four patients with this syndrome due to de novo DNMT3A pathogenic variants, contributing to a deeper understanding of the genetic basis and pathophysiology of this autosomal dominant syndrome. Clinical and magnetic resonance imaging assessments were also performed. All patients showed corpus callosum anomalies, small posterior fossa, and a deep left Sylvian fissure; as well as asymmetry of the uncinate and arcuate fascicles and marked increased cortical thickness. These results suggest that structural neuroimaging anomalies have been previously overlooked, where corpus callosum and brain tract alterations might be unrecognized neuroimaging traits of TBRS syndrome caused by DNMT3A variants.engDiscapacidad intelectualNeuroimagenTatton-Brown–Rahman syndrome: Novel pathogenic variants and new neuroimaging findingsjournal article10.1002/ajmg.a.63434open accessDesarrollo mental