MICHELLE BUSCARILLI DE MORAES
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- The Recurrent PPP1CB Mutation p. Pro49Arg in an Additional Noonan- Like Syndrome Individual: Broadening the Clinical Phenotype(2017) BERTOLA, Debora; YAMAMOTO, Guilherme; BUSCARILLI, Michelle; JORGE, Alexander; PASSOS-BUENO, Maria Rita; KIM, ChongWe 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. (C) 2017 Wiley Periodicals, Inc.