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7 results on '"Mayo, Sonia"'

4. CfDNA Measurement as a Diagnostic Tool for the Detection of Brain Somatic Mutations in Refractory Epilepsy

Author

Mayo, Sonia, Gómez Manjón, Irene, Fernández Martínez, Francisco Javier, Camacho Salas, Ana, Martínez, Francisco, Benito Leon, Julián, Mayo, Sonia, Gómez Manjón, Irene, Fernández Martínez, Francisco Javier, Camacho Salas, Ana, Martínez, Francisco, and Benito Leon, Julián

Abstract

Epilepsy is a neurological disorder that affects more than 50 million people. Its etiology is unknown in approximately 60% of cases, although the existence of a genetic factor is estimated in about 75% of these individuals. Hundreds of genes involved in epilepsy are known, and their number is increasing progressively, especially with next-generation sequencing techniques. However, there are still many cases in which the results of these molecular studies do not fully explain the phenotype of the patients. Somatic mutations specific to brain tissue could contribute to the phenotypic spectrum of epilepsy. Undetectable in the genomic DNA of blood cells, these alterations can be identified in cell-free DNA (cfDNA). We aim to review the current literature regarding the detection of somatic variants in cfDNA to diagnose refractory epilepsy, highlighting novel research directions and suggesting further studies., Instituto de Salud Carlos III (ISCIII), Mutua Madrileña Foundation (FMM), Depto. de Medicina, Fac. de Medicina, TRUE, pub

Published
2022

7. Noninvasive prenatal testing: How far can we reach detecting fetal copy number variations.

Author

Mayo S, Gómez-Manjón I, Atencia G, Moreno-Izquierdo A, Escribano D, and Fernández-Martínez FJ

Subjects
Amniocentesis, Aneuploidy, Chromosome Aberrations, Comparative Genomic Hybridization, Female, Humans, Pregnancy, Prenatal Diagnosis, Chromosome Disorders diagnosis, Chromosome Disorders genetics, DNA Copy Number Variations
Abstract

Non-invasive prenatal testing (NIPT) is currently the best screening test for fetal chromosome abnormalities with the highest sensitivity and specificity and can be done from 10 weeks gestation. We report a detection of 44.7 Mb duplication at 11p15.5-p11.2 by NIPT with a fetal fraction (FF) of only 3%. This chromosome abnormality was confirmed after amniocentesis by karyotyping and array comparative genomic hybridization (aCGH) on cultured fetal cells. Further parental investigation showed that the fetal chromosome abnormality was inherited from the mother who was a carrier of a balanced translocation 46,XX,t(11;X)(p11.2;q28). This case highlights the importance of expanded NIPT in the detection of fetal segmental aneuploidy. NIPT together with complementary studies can lead to the detection of parental chromosome rearrangement despite a low FF, which can impact the couple's reproductive plans. We also reviewed other cases with chromosome rearrangement, detected by NIPT, derived from a parental reciprocal translocation., (Copyright © 2022 Elsevier B.V. All rights reserved.)

Published
2022
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