Clinician's guide to genes associated with Rett-like phenotypes: Investigation of a Danish cohort and review of the literature

Bitten Schönewolf-Greulich, Anne-Marie Bisgaard, Rikke S Møller, Morten Dunø, Karen Brøndum-Nielsen, Simran Kaur, Nicole J Van Bergen, Sebastian Lunke, Stefanie Eggers, Cathrine Jespersgaard, John Christodoulou, Zeynep Tümer

Research output: Contribution to journalJournal articleResearchpeer-review

251 Downloads (Pure)

Abstract

The differential diagnostics in Rett syndrome has evolved with the development of next generation sequencing-based techniques and many patients have been diagnosed with other syndromes or variants in newly described genes where the associated phenotype(s) is yet to be fully explored. The term Rett-like refers to phenotypes with distinct overlapping features of Rett syndrome where the clinical criteria are not completely fulfilled. In this study we have combined a review of Rett-like disorders with data from a Danish cohort of 35 patients with Rett-like phenotypes emphasizing the diagnostic overlap with Pitt-Hopkins syndrome, Cornelia de Lange syndrome with SMC1A variants, and epileptic encephalopathies, for example, due to STXBP1 variants. We also found a patient with a pathogenic variant in KCNB1, which has not been previously linked to a Rett-like phenotype. This study underlines the clinical and genetic heterogeneity of a Rett syndrome spectrum, and provides an overview of the Rett syndrome-related genes described to date, and hence serves as a guide for diagnosing patients with Rett-like phenotypes.

Original languageEnglish
JournalClinical Genetics
Volume95
Issue number2
Pages (from-to)221-230
ISSN0009-9163
DOIs
Publication statusPublished - Feb 2019

Keywords

  • CDKL5
  • FOXG1
  • KCNB1
  • MECP2
  • RTT
  • Rett-like
  • SMC1A
  • atypical Rett

Fingerprint Dive into the research topics of 'Clinician's guide to genes associated with Rett-like phenotypes: Investigation of a Danish cohort and review of the literature'. Together they form a unique fingerprint.

Cite this