ArticleOrphanet journal of rare diseases2013
Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation.
Article in Orphanet journal of rare diseases, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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25 citing papers in PubMed, 44 citations in OpenAlex.
- WDR62-deficiency Causes Autism-like Behaviors Independent of Microcephaly in Mice.Neuroscience bulletin · 2023Article
- Genetic Primary Microcephalies: When Centrosome Dysfunction Dictates Brain and Body Size.Cells · 2023Review
- Article
- Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish.Nature communications · 2022Article
- WDR62 is required for centriole duplication in spermatogenesis and manchette removal in spermiogenesis.Communications biology · 2021Article
- Article
- Autosomal Recessive Primary Microcephaly: Not Just a Small Brain.Frontiers in cell and developmental biology · 2021Review
- Roots of the Malformations of Cortical Development in the Cell Biology of Neural Progenitor Cells.Frontiers in neuroscience · 2021Review
- The Spindle-Associated Microcephaly Protein, WDR62, Is Required for Neurogenesis and Development of the Hippocampus.Frontiers in cell and developmental biology · 2020Article
- A novel WDR62 missense mutation in microcephaly with abnormal cortical architecture and review of the literature.Journal of applied genetics · 2019Review
- Two Novel Mutations (c.883-4_890del and c.1684C>G) ofFrontiers in pediatrics · 2019Article
- Novel compound heterozygous mutations inPakistan journal of medical sciences · 2019Article
- Disorders of neurogenesis and cortical development.Dialogues in clinical neuroscience · 2018Review
- Comprehensive review on the molecular genetics of autosomal recessive primary microcephaly (MCPH).Genetics research · 2018Review
- The Role of WD40-Repeat Protein 62 (MCPH2) in Brain Growth: Diverse Molecular and Cellular Mechanisms Required for Cortical Development.Molecular neurobiology · 2018Review
- Disruptions in asymmetric centrosome inheritance and WDR62-Aurora kinase B interactions in primary microcephaly.Scientific reports · 2017Article
- Article
- Aurora A phosphorylation of WD40-repeat protein 62 in mitotic spindle regulation.Cell cycle (Georgetown, Tex.) · 2016Article
- Nek5: a new regulator of centrosome integrity.Oncotarget · 2015Article
- Asymmetric cell division of granule neuron progenitors in the external granule layer of the mouse cerebellum.Biology open · 2015Article
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Authors and funding
10 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAutosomal recessive primary microcephaly (MCPH) is a rare neurodevelopmental disease with severe microcephaly at birth due to a pronounced reduction in brain volume and intellectual disability. Biallelic mutations in the WD repeat-containing protein 62 gene WDR62 are the genetic cause of MCPH2. However, the exact underlying pathomechanism of MCPH2 remains to be clarified. METHODS/
resultsWe characterized the clinical, radiological, and cellular features that add to the human MCPH2 phenotype. Exome sequencing followed by Sanger sequencing in a German family with two affected daughters with primary microcephaly revealed in the index patient the compound heterozygous mutations c.1313G>A (p.R438H) / c.2864-2867delACAG (p.D955Afs*112) of WDR62, the second of which is novel. Radiological examination displayed small frontal lobes, corpus callosum hypoplasia, simplified hippocampal gyration, and cerebellar hypoplasia. We investigated the cellular phenotype in patient-derived lymphoblastoid cells and compared it with that of healthy female controls. WDR62 expression in the patient's immortalized lymphocytes was deranged, and mitotic spindle defects as well as abnormal centrosomal protein localization were apparent.
conclusionWe propose that a disruption of centrosome integrity and/or spindle organization may play an important role in the development of microcephaly in MCPH2.
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