RT Journal Article
T1 The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome
A1 Vidal, Silvia
A1 Brandi, Nuria
A1 Pacheco, Paola
A1 Gerotina, Edgar
A1 Blasco, Laura
A1 Trotta, Jean-Remi
A1 Derdak, Sophia
A1 del Mar O'Callaghan, Maria
A1 Garcia-Cazorla, Angels
A1 Pineda, Merce
A1 Armstrong, Judith
A1 Rett Working Grp, 
K1 De-novo mutations
K1 Intellectual disability
K1 Database
K1 Genome
K1 Dysfunction
K1 Discovery
K1 Framework
K1 Epilepsy
K1 Criteria
K1 Autism
AB 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.
PB Nature portfolio
SN 2045-2322
YR 2017
FD 2017-09-25
LK https://hdl.handle.net/10668/25479
UL https://hdl.handle.net/10668/25479
LA en
DS RISalud
RD Apr 17, 2025