Novel mutation in the KITLG gene in familial progressive hyperpigmentation with or without hypopigmentation. Issue 6 (18th March 2020)

• Record Type: Journal Article
• Authors: Kato, Maki; Yagami, Akiko; Tsukamoto, Tetsuya; Shinkai, Yasuko; Kato, Takema; Kurahashi, Hiroki
• Is Part Of: Journal of dermatology. Volume 47:Issue 6(2020)
• Page Start: 669
• Page End: 672
• Publication Date: 2020-03-18
• Subjects: exome sequencing -- familial progressive hyperpigmentation with or without hypopigmentation -- gain‐of‐function -- KITLG -- VTNN motif; Dermatology -- Periodicals; Dermatology -- Japan -- Periodicals; Skin -- Diseases -- Periodicals; 616.5005
• DOI: 10.1111/1346-8138.15313
• Languages: English
• ISSNs: 0385-2407

Abstract

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.