title: Legius syndrome: A case report.
abstract: Legius syndrome is a rare genetic disorder caused by heterozygous germ line loss-of-function SPRED1 mutation. In Japan, a family with Legius syndrome was first described in 2015 by Sakai et al. We described a first solitary case of Legius syndrome identified by next-generation sequencing in Japan. A 37-year-old woman presented with multiple café-au-lait macules and freckles but has no other features of neurofibromatosis type 1 (NF-1). Sequencing results showed the presence of a mutation in exon 2 of SPRED1 c.70C>T, resulting in the protein at position 24 (p.Arg24X). When a dermatological clinician sees an adult patient showing only pigmented lesions and no other specifically diagnostic features of NF-1, it is important to suspect the possibility of Legius syndrome.
authors.affiliation: Division of Dermatology, Department of Medicine of Sensory and Motor Organs, Tottori University Faculty of Medicine, Yonago, Japan.
authors.forename: Ryoko
authors.initials: R
authors.lastname: Kimura
authors.affiliation: Division of Dermatology, Department of Medicine of Sensory and Motor Organs, Tottori University Faculty of Medicine, Yonago, Japan.
authors.forename: Yuichi
authors.initials: Y
authors.lastname: Yoshida
authors.affiliation: Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
authors.forename: Ryo
authors.initials: R
authors.lastname: Maruoka
authors.affiliation: Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
authors.forename: Kenjiro
authors.initials: K
authors.lastname: Kosaki
authors.affiliation: Division of Dermatology, Department of Medicine of Sensory and Motor Organs, Tottori University Faculty of Medicine, Yonago, Japan.
authors.forename: Osamu
authors.initials: O
authors.lastname: Yamamoto
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D000328:Adult; D019080:Cafe-au-Lait Spots / Q000097:blood / Q000175:diagnosis* / Q000235:genetics*; D018389:Codon, Nonsense; D003937:Diagnosis, Differential; D005091:Exons / Q000235:genetics; D005260:Female; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D007564:Japan; D008548:Melanosis / Q000235:genetics; D008565:Membrane Proteins / Q000235:genetics*; D009456:Neurofibromatosis 1 / Q000175:diagnosis*; D035583:Rare Diseases / Q000097:blood / Q000175:diagnosis* / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D018389:Codon, Nonsense; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; C504812:SPRED1 protein, human
keywords: 
  SPRED1
  ; Legius syndrome; café-au-lait macules; neurofibromatosis type 1; next-generation sequencing