Premium
The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan‐like syndrome individual: Broadening the clinical phenotype
Author(s) -
Bertola Débora,
Yamamoto Guilherme,
Buscarilli Michelle,
Jorge Alexander,
PassosBueno Maria Rita,
Kim Chong
Publication year - 2017
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.38070
Subject(s) - noonan syndrome , craniosynostosis , phenotype , costello syndrome , abnormality , short stature , genetics , mutation , biology , medicine , gene , endocrinology , psychiatry , kras
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.