title: Linkage of a locus determining familial progressive hyperpigmentation (FPH) to chromosome 19p13.1-pter in a Chinese family.
abstract: Familial progressive hyperpigmentation (FPH) is a rare autosomal dominantly inherited disorder characterized by patches of hyperpigmentation in the skin which are present at birth or in early infancy and increase in size and number with age. Although previous studies showed that FPH is a monogenic trait, the genetic basis for this disease is unknown. Using a genome screening with 182 STR markers from autosomes in a three-generation Chinese family with 17 members, including 6 affected individuals, we identified a locus linked to chromosome 19p13.1-pter responsible for FPH, spanning 45.48 cM between D19S593 and 19pter. Interestingly, this region harbors the LKB1 gene, in which germline mutations were shown to be associated with Peutz-Jeghers Syndrome (PJS). PJS and FPH share the disorder of hyperpigmentation, the fine mapping of the FPH gene is expected to lead to a better understanding of the etiology for both FPH and PJS. The linkage of FPH locus to human chromosome 19p13.1-pter provides a genetic basis for further fine mapping.
authors.affiliation: Department of Dermatology, Tongji Hospital affiliated to Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
authors.forename: Caie
authors.initials: C
authors.lastname: Zhang
authors.forename: Yunhua
authors.initials: Y
authors.lastname: Deng
authors.forename: Xingping
authors.initials: X
authors.lastname: Chen
authors.forename: Xiongwen
authors.initials: X
authors.lastname: Wu
authors.forename: Wenhua
authors.initials: W
authors.lastname: Jin
authors.forename: Hao
authors.initials: H
authors.lastname: Li
authors.forename: Chunying
authors.initials: C
authors.lastname: Yu
authors.forename: Ying
authors.initials: Y
authors.lastname: Xiong
authors.forename: Liyi
authors.initials: L
authors.lastname: Zhou
authors.forename: Yingling
authors.initials: Y
authors.lastname: Chen
mesh_terms: D002681:China; D002888:Chromosomes, Human, Pair 19; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D017495:Hyperpigmentation / Q000235:genetics*; D008297:Male; D010375:Pedigree; D011995:Recombination, Genetic; D020080:Tandem Repeat Sequences