The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

Sci Rep. 2017 Sep 25;7(1):12288. doi: 10.1038/s41598-017-11620-3.

Abstract

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.

Publication types

  • Evaluation Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cohort Studies
  • DNA Copy Number Variations / genetics
  • Exome Sequencing
  • Forkhead Transcription Factors / genetics
  • Genetic Testing / methods*
  • High-Throughput Nucleotide Sequencing*
  • Humans
  • Methyl-CpG-Binding Protein 2 / genetics
  • Mutation
  • Nerve Tissue Proteins / genetics
  • Polymorphism, Single Nucleotide
  • Protein Serine-Threonine Kinases / genetics
  • Rett Syndrome / diagnosis*
  • Rett Syndrome / genetics

Substances

  • FOXG1 protein, human
  • Forkhead Transcription Factors
  • MECP2 protein, human
  • Methyl-CpG-Binding Protein 2
  • Nerve Tissue Proteins
  • Protein Serine-Threonine Kinases
  • CDKL5 protein, human