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Clin Genet. 2019 Feb;95(2):221-230. doi: 10.1111/cge.13153. Epub 2018 Jan 25.

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

Author information

1
Center for Rett Syndrome, Kennedy Center, Department of Paediatrics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
2
Applied Human Molecular Genetics, Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
3
Danish Epilepsy Centre, Dianalund, Denmark.
4
Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.
5
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
6
Neurodevelopmental Genomics Research Group, Murdoch Children's Research Institute, Melbourne, Australia.
7
Department of Paediatrics, Melbourne Medical School, University of Melbourne, Melbourne, Australia.
8
Translational Genomics Unit, Murdoch Children's Research Institute, Melbourne, Australia.

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.

KEYWORDS:

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

PMID:
29023665
DOI:
10.1111/cge.13153

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