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

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DOI

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

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

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

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  4. A 37-year-old Menkes disease patient-Residual ATP7A activity and early copper administration as key factors in beneficial treatment

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

    Research output: Contribution to journalJournal articleResearchpeer-review

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

    Research output: Contribution to journalJournal articleResearchpeer-review

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

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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.

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

    Research areas

  • Journal Article, Review

ID: 52169113