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GENATLAS PHENOTYPE
last update : 09-11-2018
Symbol NFLS
Location 15q14
Name neurofibromatosis 1-like syndrome
Other name(s) Legius syndrome
Corresponding gene SPRED1
Main clinical features
  • multiple cafe-au-lait spots, axillary freckling, macrocephaly, and a Noonan -like facial dysmorphism, with a high prevalence of café-au-lait spots, axillary, and groin freckling, but absence of neurofibromas and Lisch nodules (Pasmant 2009), mild mental retardation
  • severity appears to be much lower than that of NF1 (mild neurofibromatosis type 1 (NF1) phenotype), Lisch nodules, bone abnormalities, neurofibromas, optic pathway gliomas, and malignant peripheral nerve sheath tumors are systematically absent
    • Genetic determination autosomal dominant
    Prevalence mutations were present in 0.5p100 of all NF1 cases and in 5p100 of NF1 patients displaying an NF1-like phenotype (Pasmant 2009)
    Function/system disorder neurology
    dermatology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    nonsense   abnormal protein/loss of function  
    Remark(s)
  • caused by germline loss-of-function SPRED1 mutations, resulting in overactivation of the RAS-MAPK signal transduction cascade (PMID: 22753041))