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      Disruption of YWHAE gene at 17p13.3 causes learning disabilities and brain abnormalities.

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          Abstract

          There is a broad phenotypic spectrum of patients with 17p13.3 deletions. One of the most prominent features is lissencephaly caused by haploinsufficiency of the gene PAFAH1B1. The deletion of this gene and those distal to it, results in Miller-Dieker syndrome, however there have been many reports of patients with haploinsufficiency of the distal genes alone. The deletions of these genes including YWHAE, CRK and TUSC5 have been studied extensively and YWHAE has been postulated to be the cause of neurological abnormalities. The patients with deletions of the Miller-Dieker syndrome distal region present with variable clinical features including brain abnormalities, growth retardation, developmental delay, facial dysmorphisms and seizures. While there have been many patients reported to have deletions involving the YWHAE gene along with other genes, here we present the first detailed clinical description of a patient with deletion of YWHAE alone, allowing a more accurate characterization of the pathogenicity of YWHAE haploinsufficiency. The patient reported here demonstrated brain abnormalities, learning disabilities, and seizures supporting the role of YWHAE in these features. We review the literature and use this case report to better characterize and further confirm the genotype phenotype relationship of the genes within the critical region of Miller-Dieker Syndrome.

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          Author and article information

          Journal
          Clin. Genet.
          Clinical genetics
          Wiley-Blackwell
          1399-0004
          0009-9163
          May 23 2017
          Affiliations
          [1 ] Department of Pathology and Laboratory Medicine, Division of Diagnostic Medical Genetics, Mount Sinai Hospital, Toronto, Ontario, Canada.
          [2 ] Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.
          [3 ] Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.
          [4 ] Genetics Program, North York General Hospital, Toronto, ON, Canada.
          [5 ] Department of Paediatrics, University of Toronto, Toronto, ON, Canada.
          [6 ] Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada.
          Article
          10.1111/cge.13056
          28542865
          72862ffb-b35d-40f8-a276-c634a74c7b03
          History

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