Noonan syndrome and RASopathies: Clinical features, diagnosis and management
Journal of Genetic Medicine
; : 1-9, 2019.
Article
in En
| WPRIM
| ID: wpr-764512
Responsible library:
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.
Key words
Full text:
1
Index:
WPRIM
Main subject:
Protein Kinases
/
Puberty, Delayed
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Pulmonary Valve Stenosis
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Congenital Abnormalities
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Thorax
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Panthera
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Diagnosis
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Ectoderm
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Electrocardiography
/
Costello Syndrome
Type of study:
Diagnostic_studies
Limits:
Humans
Language:
En
Journal:
Journal of Genetic Medicine
Year:
2019
Type:
Article