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GENATLAS PHENOTYPE
last update : 04-02-2011
Symbol NS5
Location 3p25.2
Name Noonan syndrome 5
Corresponding gene RAF1
Main clinical features
  • typical heart defect, with hypertrophic cardiomyopathy,
    • typical craniofacial anomalies including hypertelorism, downward slant of palpebral fissures and ptosis, short and webbed neck
  • others : short stature, psychomotor retardation or speech delay, bleeding diasthesis, thorax deformity, cubitus valgus, low-set ears, low posterior hairline, cryptorchidism
  • neoplastic risk, increased risk of juvenile myelomonocytic leukemia
    • Genetic determination autosomal dominant
    Prevalence 3 p100 of all cases
    Function/system disorder cardiovascular
    mental retardation
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/gain of function  
    Remark(s)
  • increased heterodimerization ability is the common pathogenic mechanism for NS-associated RAF1 mutations (PMID: 22826437))
    • Genotype/Phenotype correlations mutations causing changes in the CR2 domain of RAF1 had hypertrophic cardiomyopathy, whereas affected individuals with mutations leading to changes in the CR3 domain did not