The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype.
Am J Med Genet A
; 173(3): 824-828, 2017 Mar.
Article
em En
| MEDLINE
| ID: mdl-28211982
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fenótipo
/
Códon
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Substituição de Aminoácidos
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Proteína Fosfatase 1
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Mutação
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Síndrome de Noonan
Tipo de estudo:
Prognostic_studies
Limite:
Child
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Humans
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Male
País/Região como assunto:
America do sul
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Brasil
Idioma:
En
Ano de publicação:
2017
Tipo de documento:
Article