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Novel mutation in the KITLG gene in familial progressive hyperpigmentation with or without hypopigmentation
Author(s) -
Kato Maki,
Yagami Akiko,
Tsukamoto Tetsuya,
Shinkai Yasuko,
Kato Takema,
Kurahashi Hiroki
Publication year - 2020
Publication title -
the journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.9
H-Index - 65
eISSN - 1346-8138
pISSN - 0385-2407
DOI - 10.1111/1346-8138.15313
Subject(s) - hypopigmentation , genetics , mutation , gene , biology , medicine
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.