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      • Department of Molecular Biology and Genetics
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      Muscle Hemangiomatosis presenting as a severe feature in a patient with the pten mutation: Expanding the phenotype of vascular malformations in bannayan-riley-ruvalcaba syndrome

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      Author
      Soysal, Y.
      Acun, T.
      Lourenço, C.M.
      Marques Jr. W.
      Yakicier, M.C.
      Date
      2012
      Source Title
      Balkan Journal of Medical Genetics
      Print ISSN
      13110160
      Volume
      15
      Issue
      1
      Pages
      45 - 50
      Language
      English
      Type
      Article
      Item Usage Stats
      137
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      86
      downloads
      Abstract
      Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare autosomal, dominantly-inherited, hamartoma syndrome with distinct phenotypic features. Mutations in the PTEN gene have been identified in PTEN hamartoma tumor syndromes. Our aim was to determine the correlation of phenotype-genotype relationships in a BRRS case. We have evaluated a PTEN mutation in a patient with vascular anomalies and the phenotypic findings of BRRS. We described an 8-year-old girl with the clinical features of BRRS, specifically with vascular anomalies. The mutation in the PTEN gene was identified by DNA sequencing. In our patient, we defined a de novo nonsense R335X (c.1003 C>T) mutation in exon 8, which results in a premature termination codon. Due to vascular anomalies and hemangioma, the patient's left leg was amputated 1 year after the hemangioma diagnosis. Bannayan - Riley - Ruvalcaba syndrome patients with macrocephaly and vascular anomalies should be considered for PTEN mutation analysis and special medical care.
      Keywords
      Bannayan - Riley - Ruvalcaba Syndrome (BRRS)
      Hemangioma
      Macrocephaly
      PTEN gene
      Vascular anomalies
      DNA
      phosphatidylinositol 3,4,5 trisphosphate 3 phosphatase
      angiolipoma
      angiomyolipoma
      arteriovenous malformation
      article
      autosomal disorder
      Bannayan Riley Ruvalcaba syndrome
      case report
      child
      codon
      colonoscopy
      congenital blood vessel malformation
      DNA sequence
      electroencephalogram
      electromyography
      excision
      exon
      face dysmorphia
      facial nerve paralysis
      female
      fluctuating asymmetry
      gait disorder
      gene mutation
      genotype phenotype correlation
      hamartoma
      hemangiomatosis
      histopathology
      human
      human tissue
      leg amputation
      leg pain
      macrocephaly
      medical history
      muscle atrophy
      muscle hemangiomatosis
      mutational analysis
      myopathy
      neuroimaging
      neurologic examination
      nonsense mutation
      nuclear magnetic resonance imaging
      recurrent disease
      school child
      seizure
      verruca vulgaris
      Permalink
      http://hdl.handle.net/11693/21650
      Published Version (Please cite this version)
      10.2478/v10034-012-0007-x
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      • Department of Molecular Biology and Genetics 460
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