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Article

New variant in KITLG shapes the pathogenesis of familial progressive hyper- and hypo-pigmentation.

Molecular genetics and genomics : MGG - 4 Mar 2026

Wu Bodan, He Ming, Liu Tongyun, Zhao Wenjing, Ye Jianhong, Jiang Tao, Teng Congcong, Huang Yaxin, Zhang Yangjia, Li Jiao, Shi Hong, Zhang Jie

Abstract excerpt

Familial progressive hyper- and hypo-pigmentation (FPHH) is a pigmentary disorder characterized by a mixture of hypo- and hyper-pigmentation lesions, brown spots, and hypo-pigmentation gray leaf spots. This disease had previously been reported to be associated with the KITLG gene. In this study, whole exome sequencing was performed to identify the gene mutation in two patients suspected with FPHH. Functional...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 41779177
DOI: 10.1007/s00438-026-02373-8

Genes

KITLG
MITF

Provenance

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