Family with Legius syndrome (neurofibromatosis type 1-like syndrome).

Abstract

Legius syndrome (Online Mendelian Inheritance in Man no. 611431) or neurofibromatosis type 1 (NF1)-like syndrome was first reported by Legius et al. in 2007. We herein report the first instance of Legius syndrome occurring in two female siblings in Japan. Both individuals presented cafe-au-lait macules and freckling. Mutation analysis revealed a mutation of c.349C>T resulting in p.Arg117* in the SPRED1 gene as the cause of the Legius syndrome. The National Institutes of Health criteria for NF1 are insufficient to rule out the condition. For this reason, and because the clinical course of each condition is quite different, we stress the need to differentiate Legius syndrome from NF1 clearly.

• Authors: Noriyasu Sakai, Tatsuro Maeda, Hiroshi Kawakami, Masaki Uchiyama, Kazutoshi Harada, Ryoji Tsuboi, Yoshihiko Mitsuhashi
• Journal: The Journal of dermatology (J Dermatol) Vol. 42 Issue 7 Pg. 703-5 (Jul 2015) ISSN: 1346-8138 [Electronic] England
• PMID: 25981987 (Publication Type: Case Reports, Journal Article)
• Copyright: © 2015 Japanese Dermatological Association.

Chemical References

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

Topics

• Adaptor Proteins, Signal Transducing
• Adult
• Cafe-au-Lait Spots (genetics)
• Child, Preschool
• Female
• Humans
• Intracellular Signaling Peptides and Proteins (genetics)
• Membrane Proteins (genetics)
• Mutation
• Siblings