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Title: DEPDC5 variant in focal cortical dysplasia: a case report and review of the literature
Authors: Ribeiro, Joana de Jesus 
Pereira, Cristina Duarte 
Robalo, Conceição 
Pereira, Daniela J.
Duro, Diana 
Ramos, Fabiana 
Freire, António 
Melo, Joana B. 
Issue Date: May-2021
Publisher: Oxford University Press
Project: Research grant awarded by the Center for Research in Environment, Genetics and Oncobiology (CIMAGO) 
Clinical Research Fellowship in Epilepsy awarded by Tecnifar 
Scientific Fellowship of the Portuguese League Against Epilepsy 
Serial title, monograph or event: Oxford Medical Case Reports
Volume: 2021
Issue: 5
Abstract: Germline and 2-hit brain somatic variants in DEPDC5 gene, a negative regulator of the mammalian target of rapamycin (mTOR) pathway, are increasingly recognized in patients with focal cortical dysplasia (FCD). Next-generation targeted sequencing identified a heterozygous germline variant in DEPDC5 gene (c.3241A>C, p.Thr1081Pro), classified as of unknown significance, in a patient with clinical features compatible with DEPDC5 phenotype (FCD, focal epilepsy, attention-deficit/hyperactivity disorder and borderline intellectual functioning). This missense variant has previously been reported in two other epileptic patients. Although interpretation of missense variants remains a challenge, DEPDC5 variants in patients with FCD and epilepsy cannot be neglected. Null variants were the most frequently reported in FCD patients, but missense variants have been described as well. The recognition of DEPDC5 phenotype and the appropriate interpretation of the detected variants are essential, since it may have important treatment implications in the near future, namely the use of mTOR inhibitors.
ISSN: 2053-8855
DOI: 10.1093/omcr/omab027
Rights: openAccess
Appears in Collections:FMUC Medicina - Artigos em Revistas Internacionais

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