Research
Print page Print page
Switch language
The Capital Region of Denmark - a part of Copenhagen University Hospital
Published

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

Research output: Contribution to journalReviewResearchpeer-review

DOI

  1. upd(20)mat is a rare cause of the Silver-Russell-syndrome-like phenotype: Two unrelated cases and screening of large cohorts

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Leucocytes Mutation load Declines with Age in Carriers of the m.3243A>G Mutation. A 10-year Prospective Cohort

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Targeted Gene Sequencing and Whole-Exome Sequencing in Autopsied Fetuses with Prenatally Diagnosed Kidney Anomalies

    Research output: Contribution to journalJournal articleResearchpeer-review

  1. Vacuoles, Often Containing Glycogen, Are a Consistent Finding in Hypokalemic Periodic Paralysis

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. A single c.1715G>C calpain 3 gene variant causes dominant calpainopathy with loss of calpain 3 expression and activity

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Stable Longitudinal Methylation Levels at the CpG Sites Flanking the CTG Repeat of DMPK in Patients with Myotonic Dystrophy Type 1

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Permanent muscle weakness in hypokalemic periodic paralysis

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Characteristics of patients with familial Mediterranean fever in Denmark: a retrospective nationwide register-based cohort study

    Research output: Contribution to journalJournal articleResearchpeer-review

View graph of relations

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
Number of pages10
ISSN0009-9163
DOIs
Publication statusPublished - 2019

Bibliographical note

© 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

    Research areas

  • Journal Article, Review, MECP2, atypical Rett, CDKL5, RTT, KCNB1, Rett-like, FOXG1, SMC1A

ID: 52169113