Legius syndrome: A case report

Ryoko Kimura, Yuichi Yoshida, Ryo Maruoka, Kenjiro Kosaki, Osamu Yamamoto

研究成果: Article

抄録

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.

元の言語English
ジャーナルJournal of Dermatology
DOI
出版物ステータスAccepted/In press - 2016

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Neurofibromatosis 1
Japan
Melanosis
Mutation
Inborn Genetic Diseases
Germ Cells
Exons
Legius syndrome
Proteins

ASJC Scopus subject areas

  • Dermatology

これを引用

Kimura, R., Yoshida, Y., Maruoka, R., Kosaki, K., & Yamamoto, O. (受理済み/印刷中). Legius syndrome: A case report. Journal of Dermatology. https://doi.org/10.1111/1346-8138.13687

Legius syndrome : A case report. / Kimura, Ryoko; Yoshida, Yuichi; Maruoka, Ryo; Kosaki, Kenjiro; Yamamoto, Osamu.

:: Journal of Dermatology, 2016.

研究成果: Article

Kimura, Ryoko ; Yoshida, Yuichi ; Maruoka, Ryo ; Kosaki, Kenjiro ; Yamamoto, Osamu. / Legius syndrome : A case report. :: Journal of Dermatology. 2016.
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