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.
| Original language | English |
|---|---|
| Journal | Journal of Dermatology |
| DOIs | |
| Publication status | Accepted/In press - 2016 |
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Keywords
- SPRED1
- Café-au-lait macules
- Legius syndrome
- Neurofibromatosis type 1
- Next-generation sequencing
ASJC Scopus subject areas
- Dermatology
Cite this
Legius syndrome : A case report. / Kimura, Ryoko; Yoshida, Yuichi; Maruoka, Ryo; Kosaki, Kenjiro; Yamamoto, Osamu.
In: Journal of Dermatology, 2016.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Legius syndrome
T2 - A case report
AU - Kimura, Ryoko
AU - Yoshida, Yuichi
AU - Maruoka, Ryo
AU - Kosaki, Kenjiro
AU - Yamamoto, Osamu
PY - 2016
Y1 - 2016
N2 - 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.
AB - 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.
KW - SPRED1
KW - Café-au-lait macules
KW - Legius syndrome
KW - Neurofibromatosis type 1
KW - Next-generation sequencing
UR - http://www.scopus.com/inward/record.url?scp=84995877288&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84995877288&partnerID=8YFLogxK
U2 - 10.1111/1346-8138.13687
DO - 10.1111/1346-8138.13687
M3 - Article
JO - Journal of Dermatology
JF - Journal of Dermatology
SN - 0385-2407
ER -