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PURA Syndrome and Myotonia

  • Steven P. Trau
    Correspondence
    Communications should be addressed to: Trau; Division of Neurology; Department of Pediatrics; Duke University Children’s Hospital and Duke University School of Medicine; Durham, NC 27710.
    Affiliations
    Division of Neurology, Department of Pediatrics, Duke University Children’s Hospital and Duke University School of Medicine, Durham, North Carolina
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  • Carolyn E. Pizoli
    Affiliations
    Division of Neurology, Department of Pediatrics, Duke University Children’s Hospital and Duke University School of Medicine, Durham, North Carolina
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      Mutations in PURA (coding for purine-rich element binding protein A) have recently been shown to cause the neurodevelopmental disorder previously associated with 5q31.3 microdeletion syndrome.
      • Hunt D.
      • Leventer R.J.
      • Simons C.
      • et al.
      Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.
      ,
      • Lalani S.R.
      • Zhang J.
      • Schaaf C.P.
      • et al.
      Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.
      To date, children with PURA syndrome have been described with neonatal hypotonia, hypersomnolence, hypothermia, respiratory compromise, and feeding difficulties. All reported patients have moderate-to-severe neurodevelopmental delays, with some developing epilepsy and nonepileptic hyperkinetic movements (dystonia, dyskinesia, and eye movement abnormalities) later. Here, we present the first case of myotonia in PURA syndrome.

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      References

        • Hunt D.
        • Leventer R.J.
        • Simons C.
        • et al.
        Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.
        J Med Genet. 2014; 51: 806-813
        • Lalani S.R.
        • Zhang J.
        • Schaaf C.P.
        • et al.
        Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.
        Am J Hum Genet. 2014; 95: 579-583
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