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Novel mutation in the KITLG gene in familial progressive hyperpigmentation with or without hypopigmentation.
J Dermatol. 2020 Jun; 47(6):669-672.JD

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.

Authors+Show Affiliations

Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan.Departments of, Department of, Dermatology, Fujita Health University School of Medicine, Toyoake, Japan.Department of, Diagnostic Pathology, Fujita Health University School of Medicine, Toyoake, Japan.Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan.Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan.Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

32189379

Citation

Kato, Maki, et al. "Novel Mutation in the KITLG Gene in Familial Progressive Hyperpigmentation With or Without Hypopigmentation." The Journal of Dermatology, vol. 47, no. 6, 2020, pp. 669-672.
Kato M, Yagami A, Tsukamoto T, et al. Novel mutation in the KITLG gene in familial progressive hyperpigmentation with or without hypopigmentation. J Dermatol. 2020;47(6):669-672.
Kato, M., Yagami, A., Tsukamoto, T., Shinkai, Y., Kato, T., & Kurahashi, H. (2020). Novel mutation in the KITLG gene in familial progressive hyperpigmentation with or without hypopigmentation. The Journal of Dermatology, 47(6), 669-672. https://doi.org/10.1111/1346-8138.15313
Kato M, et al. Novel Mutation in the KITLG Gene in Familial Progressive Hyperpigmentation With or Without Hypopigmentation. J Dermatol. 2020;47(6):669-672. PubMed PMID: 32189379.
* Article titles in AMA citation format should be in sentence-case
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, Y1 - 2020/03/18/ PY - 2019/10/30/received PY - 2020/02/18/accepted PY - 2020/3/20/pubmed PY - 2021/3/16/medline PY - 2020/3/20/entrez KW - KITLG KW - VTNN motif KW - exome sequencing KW - familial progressive hyperpigmentation with or without hypopigmentation KW - gain-of-function SP - 669 EP - 672 JF - The Journal of dermatology JO - J Dermatol VL - 47 IS - 6 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. SN - 1346-8138 UR - https://wwww.unboundmedicine.com/medline/citation/32189379/Novel_mutation_in_the_KITLG_gene_in_familial_progressive_hyperpigmentation_with_or_without_hypopigmentation_ L2 - https://doi.org/10.1111/1346-8138.15313 DB - PRIME DP - Unbound Medicine ER -