title: The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype.
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.
authors.affiliation: Unidade de Genética Clínica, Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.|Instituto de Biociências da Universidade de São Paulo, São Paulo, Brazil.
authors.forename: Débora
authors.initials: D
authors.lastname: Bertola
authors.affiliation: Unidade de Genética Clínica, Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.|Instituto de Biociências da Universidade de São Paulo, São Paulo, Brazil.
authors.forename: Guilherme
authors.initials: G
authors.lastname: Yamamoto
authors.affiliation: Unidade de Genética Clínica, Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
authors.forename: Michelle
authors.initials: M
authors.lastname: Buscarilli
authors.affiliation: Unidade de Endocrinologia Genética, LIM/25 do Hospital das Clinicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
authors.forename: Alexander
authors.initials: A
authors.lastname: Jorge
authors.affiliation: Instituto de Biociências da Universidade de São Paulo, São Paulo, Brazil.
authors.forename: Maria Rita
authors.initials: MR
authors.lastname: Passos-Bueno
authors.affiliation: Unidade de Genética Clínica, Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
authors.forename: Chong
authors.initials: C
authors.lastname: Kim
mesh_terms: D019943:Amino Acid Substitution; D001938:Brazil; D002648:Child; D003062:Codon; D056726:Genetic Association Studies; D006801:Humans; D008297:Male; D009154:Mutation; D020125:Mutation, Missense; D009634:Noonan Syndrome / Q000175:diagnosis* / Q000235:genetics*; D010641:Phenotype; D054645:Protein Phosphatase 1 / Q000235:genetics*
chemical_list: D003062:Codon; C517188:PPP1CB protein, human; D054645:Protein Phosphatase 1
keywords: Noonan syndrome-like disorder with loose anagen hair; PPP1CB; PPP1CB-related Noonan syndrome with loose anagen hair; RASopathies; craniosynostosis