title: 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.affiliation: Institute of Dermatology and Department of Dermatology at No.1 Hospital, Anhui Medical University, Hefei, Anhui, China; Shandong Provincial Institute of Dermatology and Venereology, Jinan, Shandong, China; Shandong Provincial Key Lab for Dermatovenereology, Jinan, Shandong, China.
authors.forename: Mingfei
authors.initials: M
authors.lastname: Chen
authors.affiliation: Department of Human Genetics, Genome Institute of Singapore, Singapore, Republic of Singapore.
authors.forename: Yi
authors.initials: Y
authors.lastname: Li
authors.affiliation: Shandong Provincial Institute of Dermatology and Venereology, Jinan, Shandong, China; Shandong Provincial Key Lab for Dermatovenereology, Jinan, Shandong, China.
authors.forename: Hong
authors.initials: H
authors.lastname: Liu
authors.affiliation: Shandong Provincial Institute of Dermatology and Venereology, Jinan, Shandong, China; Shandong Provincial Key Lab for Dermatovenereology, Jinan, Shandong, China.
authors.forename: Xi'an
authors.initials: X
authors.lastname: Fu
authors.affiliation: Shandong Provincial Institute of Dermatology and Venereology, Jinan, Shandong, China; Shandong Provincial Key Lab for Dermatovenereology, Jinan, Shandong, China.
authors.forename: Yiongxiang
authors.initials: Y
authors.lastname: Yu
authors.affiliation: Shandong Provincial Institute of Dermatology and Venereology, Jinan, Shandong, China; Shandong Provincial Key Lab for Dermatovenereology, Jinan, Shandong, China.
authors.forename: Gongqi
authors.initials: G
authors.lastname: Yu
authors.affiliation: Shandong Provincial Institute of Dermatology and Venereology, Jinan, Shandong, China; Shandong Provincial Key Lab for Dermatovenereology, Jinan, Shandong, China.
authors.forename: Chuan
authors.initials: C
authors.lastname: Wang
authors.affiliation: Shandong Provincial Institute of Dermatology and Venereology, Jinan, Shandong, China; Shandong Provincial Key Lab for Dermatovenereology, Jinan, Shandong, China.
authors.forename: Fangfang
authors.initials: F
authors.lastname: Bao
authors.affiliation: Department of Human Genetics, Genome Institute of Singapore, Singapore, Republic of Singapore.
authors.forename: Herty
authors.initials: H
authors.lastname: Liany
authors.affiliation: Shandong Provincial Institute of Dermatology and Venereology, Jinan, Shandong, China; Shandong Provincial Key Lab for Dermatovenereology, Jinan, Shandong, China.
authors.forename: Zhenzhen
authors.initials: Z
authors.lastname: Wang
authors.affiliation: Shandong Provincial Hospital for Skin Diseases, Jinan, Shandong, China; Shandong Provincial Medical Center for Dermatovenereology, Jinan, Shandong, China.
authors.forename: Zhongxiang
authors.initials: Z
authors.lastname: Shi
authors.affiliation: Shandong Provincial Hospital for Skin Diseases, Jinan, Shandong, China; Shandong Provincial Medical Center for Dermatovenereology, Jinan, Shandong, China.
authors.forename: Dizhan
authors.initials: D
authors.lastname: Zhang
authors.affiliation: Shandong Provincial Institute of Dermatology and Venereology, Jinan, Shandong, China; Shandong Provincial Medical Center for Dermatovenereology, Jinan, Shandong, China.
authors.forename: Guizhi
authors.initials: G
authors.lastname: Zhou
authors.affiliation: Department of Human Genetics, Genome Institute of Singapore, Singapore, Republic of Singapore.
authors.forename: Jianjun
authors.initials: J
authors.lastname: Liu
authors.affiliation: Shandong Provincial Institute of Dermatology and Venereology, Jinan, Shandong, China; Shandong Provincial Hospital for Skin Diseases, Jinan, Shandong, China; Shandong Provincial Key Lab for Dermatovenereology, Jinan, Shandong, China; Shandong Provincial Medical Center for Dermatovenereology, Jinan, Shandong, China.
authors.forename: Furen
authors.initials: F
authors.lastname: Zhang
mesh_terms: D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D059472:Exome; D005260:Female; D005647:Fucosyltransferases / Q000235:genetics*; D008040:Genetic Linkage; D006801:Humans; D017495:Hyperpigmentation / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree; D017384:Sequence Deletion; D012873:Skin Diseases, Genetic / Q000235:genetics*; D017444:Skin Diseases, Papulosquamous / Q000235:genetics*
chemical_list: D005647:Fucosyltransferases; C105148:polypeptide fucosyltransferase