| Autor: |
Vidal S; Molecular and Genetics Medicine Section, Hospital Sant Joan de Déu, Barcelona, Spain., Brandi N; Facultat de Medicina, Universitat de Barcelona, Barcelona, Spain., Pacheco P; Molecular and Genetics Medicine Section, Hospital Sant Joan de Déu, Barcelona, Spain., Gerotina E; Molecular and Genetics Medicine Section, Hospital Sant Joan de Déu, Barcelona, Spain., Blasco L; Molecular and Genetics Medicine Section, Hospital Sant Joan de Déu, Barcelona, Spain., Trotta JR; Centro Nacional de Análisis Genómica (CNAG-CRG), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Spain., Derdak S; Centro Nacional de Análisis Genómica (CNAG-CRG), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Spain., Del Mar O'Callaghan M; Neurology Service, Hospital Sant Joan de Déu, Barcelona, Spain.; Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona, Spain.; CIBER-ER (Biomedical Network Research Center for Rare Diseases), Instituto de Salud Carlos III, Madrid, Spain., Garcia-Cazorla À; Neurology Service, Hospital Sant Joan de Déu, Barcelona, Spain.; Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona, Spain.; CIBER-ER (Biomedical Network Research Center for Rare Diseases), Instituto de Salud Carlos III, Madrid, Spain., Pineda M; Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona, Spain., Armstrong J; Molecular and Genetics Medicine Section, Hospital Sant Joan de Déu, Barcelona, Spain. jarmstrong@sjdhospitalbarcelona.org.; Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona, Spain. jarmstrong@sjdhospitalbarcelona.org.; CIBER-ER (Biomedical Network Research Center for Rare Diseases), Instituto de Salud Carlos III, Madrid, Spain. jarmstrong@sjdhospitalbarcelona.org. |
| Abstrakt: |
Rett syndrome (RTT) is an early-onset neurodevelopmental disorder that almost exclusively affects girls and is totally disabling. Three genes have been identified that cause RTT: MECP2, CDKL5 and FOXG1. However, the etiology of some of RTT patients still remains unknown. Recently, next generation sequencing (NGS) has promoted genetic diagnoses because of the quickness and affordability of the method. To evaluate the usefulness of NGS in genetic diagnosis, we present the genetic study of RTT-like patients using different techniques based on this technology. We studied 1577 patients with RTT-like clinical diagnoses and reviewed patients who were previously studied and thought to have RTT genes by Sanger sequencing. Genetically, 477 of 1577 patients with a RTT-like suspicion have been diagnosed. Positive results were found in 30% by Sanger sequencing, 23% with a custom panel, 24% with a commercial panel and 32% with whole exome sequencing. A genetic study using NGS allows the study of a larger number of genes associated with RTT-like symptoms simultaneously, providing genetic study of a wider group of patients as well as significantly reducing the response time and cost of the study. |
