Analysis of POFUT1 gene mutation in a Chinese family with Dowling-Degos disease.

Abstract

Dowling-Degos disease (DDD) is an autosomal dominant genodermatosis characterized by reticular pigmented anomaly mainly affecting flexures. Though KRT5 has been identified to be the causal gene of DDD, the heterogeneity of this disease was displayed: for example, POFUT1 and POGLUT1 were recently identified and confirmed to be additional pathogenic genes of DDD. To identify other DDD causative genes, we performed genome-wide linkage and exome sequencing analyses in a multiplex Chinese DDD family, in which the KRT5 mutation was absent. Only a novel 1-bp deletion (c.246+5delG) in POFUT1 was found. No other novel mutation or this deletion was detected in POFUT1 in a second DDD family and a sporadic DDD case by Sanger Sequencing. The result shows the genetic-heterogeneity and complexity of DDD and will contribute to the further understanding of DDD genotype/phenotype correlations and to the pathogenesis of this disease.

• Authors: Mingfei Chen, Yi Li, Hong Liu, Xi'an Fu, Yiongxiang Yu, Gongqi Yu, Chuan Wang, Fangfang Bao, Herty Liany, Zhenzhen Wang, Zhongxiang Shi, Dizhan Zhang, Guizhi Zhou, Jianjun Liu, Furen Zhang
• Journal: PloS one (PLoS One) Vol. 9 Issue 8 Pg. e104496 ( 2014) ISSN: 1932-6203 [Electronic] United States
• PMID: 25157627 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Fucosyltransferases
• polypeptide fucosyltransferase

Topics

• Asian People (genetics)
• Base Sequence
• Exome
• Female
• Fucosyltransferases (genetics)
• Genetic Linkage
• Humans
• Hyperpigmentation (genetics)
• Male
• Mutation
• Pedigree
• Sequence Deletion
• Skin Diseases, Genetic (genetics)
• Skin Diseases, Papulosquamous (genetics)