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Related Experiment Videos

Legius syndrome: A case report.

Ryoko Kimura1, Yuichi Yoshida1, Ryo Maruoka2

  • 1Division of Dermatology, Department of Medicine of Sensory and Motor Organs, Tottori University Faculty of Medicine, Yonago, Japan.

The Journal of Dermatology
|April 6, 2017
PubMed
Summary
This summary is machine-generated.

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Legius syndrome, a rare genetic disorder, can now be identified in Japan via next-generation sequencing. Early suspicion in adults with only pigmented skin lesions is crucial for diagnosis.

Area of Science:

  • Genetics
  • Dermatology
  • Rare Diseases

Background:

  • Legius syndrome is a rare genetic disorder linked to SPRED1 gene mutations.
  • The first family case in Japan was reported in 2015.
  • Neurofibromatosis type 1 (NF-1) shares some clinical features.

Observation:

  • A solitary case of Legius syndrome was identified in a 37-year-old Japanese woman.
  • The patient presented with multiple café-au-lait macules and freckles.
  • She lacked other characteristic features of NF-1.

Findings:

  • Next-generation sequencing identified a SPRED1 mutation (c.70C>T) in exon 2.
  • This mutation leads to a premature stop codon, p.Arg24X.
  • This confirms Legius syndrome in the absence of NF-1 diagnostic criteria.
Keywords:
SPRED1Legius syndromecafé-au-lait maculesneurofibromatosis type 1next-generation sequencing

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Implications:

  • This case highlights the utility of next-generation sequencing for diagnosing Legius syndrome in Japan.
  • Dermatologists should consider Legius syndrome in adult patients with isolated pigmented skin lesions.
  • Accurate diagnosis is vital for appropriate patient management and genetic counseling.