Novel mutation in the KITLG gene in familial progressive hyperpigmentation with or without hypopigmentation

Maki Kato, Akiko Yagami, Tetsuya Tsukamoto, Yasuko Shinkai, Takema Kato, Hiroki Kurahashi

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)669-672
Number of pages4
JournalJournal of Dermatology
Volume47
Issue number6
DOIs
Publication statusPublished - 01-06-2020

All Science Journal Classification (ASJC) codes

  • Dermatology

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