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

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

  • Am J Med Genet A. 2017 Mar;173(3):824-828. doi: 10.1002/ajmg.a.38070.
Débora Bertola 1 2,  Guilherme Yamamoto 1 2,  Michelle Buscarilli 1,  Alexander Jorge 3,  Maria Rita Passos-Bueno 2,  Chong Kim 1
Affiliations

Affiliations

  • 1 Unidade de Genética Clínica, Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
  • 2 Instituto de Biociências da Universidade de São Paulo, São Paulo, Brazil.
  • 3 Unidade de Endocrinologia Genética, LIM/25 do Hospital das Clinicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
PMID: 28211982 DOI: 10.1002/ajmg.a.38070
Abstract

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.

Keywords

Noonan syndrome-like disorder with loose anagen hair; PPP1CB; PPP1CB-related Noonan syndrome with loose anagen hair; RASopathies; craniosynostosis.

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