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Article

Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease.

American journal of human genetics - 6 Jun 2013

Li Ming, Cheng Ruhong, Liang Jianying, Yan Heng, Zhang Hui, Yang Lijia, Li Chengrang, Jiao Qingqing, Lu Zhiyong, He Jianhui, Ji Jin, Shen Zhu, Li Chunqi, Hao Fei, Yu Hong, Yao Zhirong

Abstract excerpt

Dowling-Degos disease (DDD), or reticular pigmented anomaly of the flexures, is a type of rare autosomal-dominant genodermatosis characterized by reticular hyperpigmentation and hypopigmentation of the flexures, such as the neck, axilla, and areas below the breasts and groin, and shows considerable heterogeneity. Loss-of-function mutations of keratin 5 (KRT5) have been identified in DDD individuals. In this...

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Share to Chromosomes, Human, Pair 20
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 23684010
DOI: 10.1016/j.ajhg.2013.04.022
PMCID: PMC3675235

Genes

POFUT1
KRT5
HES1
NOTCH1
NOTCH2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease.PMID 23684010Read ↗

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Mutations in POFUT1, Encoding Protein O-fucosyltransferase 1, Cause Generalized Dowling-Degos DiseaseSemantic proximity Read ↗

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Flexural Reticulate Hyperpigmentation Unmasking Dowling-Degos Disease: A Clinical and Histopathological InsightSemantic proximity Read ↗

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