Noonan syndrome and RASopathies: Clinical features, diagnosis and management
Journal of Genetic Medicine
; : 1-9, 2019.
Article
em En
| WPRIM
| ID: wpr-764512
Biblioteca responsável:
WPRO
ABSTRACT
Noonan syndrome (NS) and NS-related disorders (cardio-facio-cutaneous syndrome, Costello syndrome, NS with multiple lentigines, or LEOPARD [lentigines, ECG conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth and sensory neural deafness] syndrome) are collectively named as RASopathies. Clinical presentations are similar, featured with typical facial features, short stature, intellectual disability, ectodermal abnormalities, congenital heart diseases, chest & skeletal deformity and delayed puberty. During past decades, molecular etiologies of RASopathies have been growingly discovered. The functional perturbations of the RAS-mitogen-activated protein kinase pathway are resulted from the mutation of more than 20 genes (PTPN11, SOS1, RAF1, SHOC2, BRAF, KRAS, NRAS, HRAS, MEK1, MEK2, CBL, SOS2, RIT, RRAS, RASA2, SPRY1, LZTR1, MAP3K8, MYST4, A2ML1, RRAS2). The PTPN11 (40–50%), SOS1 (10–20%), RAF1 (3–17%), and RIT1 (5–9%) mutations are common in NS patients. In this review, the constellation of overlapping clinical features of RASopathies will be described based on genotype as well as their differential diagnostic points and management.
Palavras-chave
Texto completo:
1
Base de dados:
WPRIM
Assunto principal:
Proteínas Quinases
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Puberdade Tardia
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Estenose da Valva Pulmonar
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Anormalidades Congênitas
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Tórax
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Panthera
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Diagnóstico
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Ectoderma
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Eletrocardiografia
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Síndrome de Costello
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
Idioma:
En
Revista:
Journal of Genetic Medicine
Ano de publicação:
2019
Tipo de documento:
Article