The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan‐like syndrome individual: Broadening the clinical phenotype. Issue 3 (March 2017)

• Record Type: Journal Article
• Authors: Bertola, Débora; Yamamoto, Guilherme; Buscarilli, Michelle; Jorge, Alexander; Passos‐Bueno, Maria Rita; Kim, Chong
• Is Part Of: American journal of medical genetics. Volume 173:Issue 3(2017)
• Page Start: 824
• Page End: 828
• Publication Date: 2017-03
• Subjects: RASopathies -- PPP1CB -- Noonan syndrome‐like disorder with loose anagen hair -- PPP1CB‐related Noonan syndrome with loose anagen hair -- craniosynostosis; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.38070
• Languages: English
• ISSNs: 1552-4825

Abstract

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.