TY - JOUR
T1 - Novel mutation in the KITLG gene in familial progressive hyperpigmentation with or without hypopigmentation
AU - Kato, Maki
AU - Yagami, Akiko
AU - Tsukamoto, Tetsuya
AU - Shinkai, Yasuko
AU - Kato, Takema
AU - Kurahashi, Hiroki
N1 - Publisher Copyright:
© 2020 Japanese Dermatological Association
PY - 2020/6/1
Y1 - 2020/6/1
N2 - We herein report a novel mutation in familial progressive hyper- and hypopigmentation (FPHH). The KITLG gene encoding the KIT ligand protein is a disease-causing gene for FPHH. Various disease-causing gain-of-function mutations, which reside within or adjacent to the conserved VTNN motif of this gene, have been described to date. We have now identified a novel KITLG mutation, c.337G>A (p.Glu113Lys), in FPHH which is located within another ligand-receptor interaction site.
AB - We herein report a novel mutation in familial progressive hyper- and hypopigmentation (FPHH). The KITLG gene encoding the KIT ligand protein is a disease-causing gene for FPHH. Various disease-causing gain-of-function mutations, which reside within or adjacent to the conserved VTNN motif of this gene, have been described to date. We have now identified a novel KITLG mutation, c.337G>A (p.Glu113Lys), in FPHH which is located within another ligand-receptor interaction site.
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U2 - 10.1111/1346-8138.15313
DO - 10.1111/1346-8138.15313
M3 - Article
C2 - 32189379
AN - SCOPUS:85082404144
SN - 0385-2407
VL - 47
SP - 669
EP - 672
JO - Journal of Dermatology
JF - Journal of Dermatology
IS - 6
ER -