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

Authors:
Debora Bertola
Debora Bertola
Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo
Brazil
Guilherme Yamamoto
Guilherme Yamamoto
Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo
Brazil
Michelle Buscarilli
Michelle Buscarilli
Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo
Brazil
Alexander Jorge
Alexander Jorge
Laboratorio de Hormonios e Genetica Molecular LIM/42
Maria Rita Passos-Bueno
Maria Rita Passos-Bueno
Centro de Estudos do Genoma Humano
Brazil
Chong Kim
Chong Kim
Chonnam National University Hospital
South Korea

Am J Med Genet A 2017 Mar;173(3):824-828

Unidade de Genética Clínica, Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.

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.

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38070DOI Listing
March 2017
7 Reads

Publication Analysis

Top Keywords

loose anagen
12
disorder loose
8
noonan syndrome-like
8
syndrome-like disorder
8
anagen hair
8
craniosynostosis rare
4
observed noonan
4
presented craniosynostosis
4
additionally presented
4
hair additionally
4
finding observed
4
ectodermal finding
4
hotspot phenotypically
4
mutational hotspot
4
suggesting mutational
4
variant suggesting
4
phenotypically hair
4
hair pattern-sparse
4
typical ectodermal
4
growing- typical
4

Similar Publications