The first Slovak Legius syndrome patient carrying the SPRED1 gene mutation

Gen Physiol Biophys. 2017 Apr;36(2):205-210. doi: 10.4149/gpb_2016032. Epub 2017 Feb 2.


Autosomal dominant disorder Legius syndrome (NF1- like syndrome) shows phenotype features that overlap with neurofibromatosis type 1 (NF1), such as CALMs, freckling, macrocephaly and learning disability. Mutation analysis provides an important tool in order to distinguish two entities that have different clinical implications. We analyzed SPRED1 gene by cDNA and/or gDNA sequencing in a cohort of 46 Slovak patients in whom previously NF1 mutation was excluded. In one case we identified a nonsense mutation c.46C>T (p.Arg16*) in exon 2 of SPRED1 gene, confirming diagnosis of Legius syndrome. This mutation was reported previously.

Publication types

  • Case Reports

MeSH terms

  • Adaptor Proteins, Signal Transducing
  • Adolescent
  • Adult
  • Cafe-au-Lait Spots / epidemiology*
  • Cafe-au-Lait Spots / genetics*
  • Child
  • Child, Preschool
  • Female
  • Genetic Markers / genetics
  • Genetic Predisposition to Disease / epidemiology
  • Genetic Predisposition to Disease / genetics
  • Genetic Testing / methods*
  • Humans
  • Infant
  • Intracellular Signaling Peptides and Proteins / genetics*
  • Male
  • Membrane Proteins / genetics*
  • Middle Aged
  • Mutation / genetics
  • Polymorphism, Single Nucleotide / genetics*
  • Prevalence
  • Risk Factors
  • Slovakia / ethnology
  • Young Adult


  • Adaptor Proteins, Signal Transducing
  • Genetic Markers
  • Intracellular Signaling Peptides and Proteins
  • Membrane Proteins
  • SPRED1 protein, human

Supplementary concepts

  • Legius syndrome