Genome-wide linkage and exome sequencing analyses identify an initiation codon mutation of KRT5 in a unique Chinese family with generalized Dowling-Degos disease

Br J Dermatol. 2016 Mar;174(3):663-6. doi: 10.1111/bjd.14178. Epub 2015 Dec 26.

Authors

M Li¹, J Wang², J Zhang¹, C Ni¹, X Li², J Liang¹, R Cheng¹, Z Li², Z Yao¹

Affiliations

¹ Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, 1665 Kongjiang Road, Shanghai, 200092, China.
² Department of Dermatology, Henan Provincial People's Hospital, Zhengzhou, Henan, China.

PMID: 26440693
DOI: 10.1111/bjd.14178

No abstract available

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Exome / genetics
Genetic Linkage / genetics
Humans
Hyperpigmentation / genetics*
Keratin-5 / genetics*
Male
Mutation / genetics*
Pedigree
Pigmentation Disorders / congenital*
Pigmentation Disorders / genetics
Skin Diseases, Genetic / genetics*
Skin Diseases, Papulosquamous / genetics*

Substances

KRT5 protein, human
Keratin-5

Supplementary concepts

Dowling-Degos Disease
Dyschromatosis symmetrica hereditaria 1