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

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

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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

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

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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

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

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  4. Expanding the cerebrovascular phenotype of the p.R258H variant in ACTA2 related hereditary thoracic aortic disease (HTAD)

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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 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.

OriginalsprogEngelsk
TidsskriftClinical Genetics
Vol/bind95
Udgave nummer2
Sider (fra-til)221-230
Antal sider10
ISSN0009-9163
DOI
StatusUdgivet - 2019

ID: 52169113