WDR45 mutations in Rett (-like) syndrome and developmental delay: Case report and an appraisal of the literature

Hoffjan, Sabine; Ibisler, Aysegül; Tschentscher, Anne; Dekomien, Gabriele; Bidinost, Carla; Rosa, Alberto L.

doi:10.1016/j.mcp.2016.01.003

Cited by 39 publications

(47 citation statements)

References 20 publications

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“…Variants of all the other genes listed in Figure , except for WDR45 , have been observed in only 1 or 2 patients, and these genes are described in more detail in Appendix S1 (Supporting information).…”

Section: Clinical or Genetic Diagnosis?mentioning

confidence: 99%

Clinician’s guide to genes associated with Rett‐like phenotypes—Investigation of a Danish cohort and review of the literature

et al. 2018

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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 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.

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Section: Clinical or Genetic Diagnosis?mentioning

confidence: 99%

Clinician’s guide to genes associated with Rett‐like phenotypes—Investigation of a Danish cohort and review of the literature

et al. 2018

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“…A total of 64 patients were included in the analysis, comprising 55 women (85.9%) and nine men (14.1%) (Tables and ) . Mean age at diagnosis was 27.6 ± 14 years (range 1–52), and mean age at deterioration was 27.2 ± 5.7 (range 13–39).…”

Section: Literature Reviewmentioning

confidence: 99%

Beta‐propeller protein‐associated neurodegeneration: a case report and review of the literature

Stige

Gjerde

Houge

et al. 2018

Clinical Case Reports

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Key Clinical MessageBeta‐propeller protein‐associated neurodegeneration (BPAN) is a rare disorder, which is increasingly recognized thanks to next‐generation sequencing. Due to a highly variable phenotype, patients may present to pediatrics, neurology, psychiatry, or internal medicine. It is therefore essential that physicians of different specialties are familiar with this severe and debilitating condition.

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“…We found a de novo splice site variant in a female simplex proband 21974‐35254 involving the WD Repeat Domain 45 ( WDR45 ) gene, which has been strongly associated with Beta‐propeller protein‐associated neurodegeneration, a disorder characterized by an early‐onset global developmental delay and further neurological deterioration by early adulthood . A majority of previously reported WDR45 mutations were de novo and many of them were splice site mutations . Published reports suggest that WDR45 mutations are associated with a broad phenotypic spectrum, ranging from epileptic encephalopathy, Rett (−like) and West syndrome to only mild cognitive delay .…”

Section: Discussionmentioning

confidence: 99%

Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohort

et al. 2019

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Autism spectrum disorder (ASD) is a highly heterogeneous genetic disorder with strong evidence of ASD‐association currently available only for a small number of genes. This makes it challenging to identify the underlying genetic cause in many cases of ASD, and there is a continuing need for further discovery efforts. We sequenced whole genomes of 119 deeply phenotyped ASD probands in order to identify likely pathogenic variants. We prioritized variants found in each subject by predicted damage, population frequency, literature evidence, and phenotype concordance. We used Sanger sequencing to determine the inheritance status of high‐priority variants where possible. We report five novel de novo damaging variants as well as several likely damaging variants of unknown inheritance; these include two novel de novo variants in the well‐established ASD gene SCN2A. The availability of rich phenotypic information and its concordance with the literature allowed us to increase our confidence in pathogenicity of discovered variants, especially in probands without parental DNA. Our results contribute to the documentation of potential pathogenic variants and their associated phenotypes in individuals with ASD.

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WDR45 mutations in Rett (-like) syndrome and developmental delay: Case report and an appraisal of the literature

Cited by 39 publications

References 20 publications

Clinician’s guide to genes associated with Rett‐like phenotypes—Investigation of a Danish cohort and review of the literature

Clinician’s guide to genes associated with Rett‐like phenotypes—Investigation of a Danish cohort and review of the literature

Beta‐propeller protein‐associated neurodegeneration: a case report and review of the literature

Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohort

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