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

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

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

Afiliación

Kato M; Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan.
Yagami A; Departments of, Department of, Dermatology, Fujita Health University School of Medicine, Toyoake, Japan.
Tsukamoto T; Department of, Diagnostic Pathology, Fujita Health University School of Medicine, Toyoake, Japan.
Shinkai Y; Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan.
Kato T; Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan.
Kurahashi H; Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan.

J Dermatol ; 47(6): 669-672, 2020 Jun.

Article en En | MEDLINE | ID: mdl-32189379

RESUMEN

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.

Asunto(s)

Hiperpigmentación/genética; Hipopigmentación/genética; Factor de Células Madre/genética; Adulto; Biopsia; Niño; Análisis Mutacional de ADN; Femenino; Pruebas Genéticas; Humanos; Hiperpigmentación/diagnóstico; Hiperpigmentación/patología; Hipopigmentación/diagnóstico; Hipopigmentación/patología; Masculino; Persona de Mediana Edad; Mutación Missense; Linaje; Piel/patología

Palabras clave

KITLG; VTNN motif; exome sequencing; familial progressive hyperpigmentation with or without hypopigmentation; gain-of-function

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Hipopigmentación / Hiperpigmentación / Factor de Células Madre Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Child / Female / Humans / Male / Middle aged Idioma: En Revista: J Dermatol Año: 2020 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Reino Unido

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