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Rigshospitalet - en del af Københavns Universitetshospital
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Clinician's guide to genes associated with Rett-like phenotypes - Investigation of a Danish cohort and review of the literature

Publikation: Bidrag til tidsskriftReviewForskningpeer review

DOI

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

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. Patterns of sedentary time and ambulatory physical activity in a Danish population of girls and women with Rett syndrome

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Development, behaviour and autism in individuals with SMC1A variants

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Vis graf over relationer

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 paper 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 previously been 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.

OriginalsprogEngelsk
TidsskriftClinical Genetics
Vol/bind95
Udgave nummer2
Sider (fra-til)221-230
ISSN0009-9163
DOI
StatusUdgivet - 2019

ID: 52169113