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    The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype.

    • Authors:
    • Debora Bertola
      Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo
      Brazil
      Guilherme Yamamoto
      Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo
      Brazil
      Michelle Buscarilli
      Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo
      Brazil
      Alexander Jorge
      Laboratorio de Hormonios e Genetica Molecular LIM/42
      Maria Rita Passos-Bueno
      Centro de Estudos do Genoma Humano
      Brazil
      Chong Kim
      Chonnam National University Hospital
      South Korea
    Am J Med Genet A 2017 Mar;173(3):824-828
    Unidade de Genética Clínica, Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
    We report on a 12-year-old Brazilian boy with the p.Pro49Arg mutation in PPP1CB, a novel gene associated with RASopathies. This is the fifth individual described, and the fourth presenting the same variant, suggesting a mutational hotspot. Phenotypically, he also showed the same hair pattern-sparse, thin, and with slow growing-, similar to the typical ectodermal finding observed in Noonan syndrome-like disorder with loose anagen hair. Additionally, he presented craniosynostosis, a rare clinical finding in RASopathies. This report gives further support that this novel RASopathy-PPP1CB-related Noonan syndrome with loose anagen hair-shares great similarity to Noonan syndrome-like disorder with loose anagen hair, and expands the phenotypic spectrum by adding the cranial vault abnormality. © 2017 Wiley Periodicals, Inc.
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