title: A locus for familial generalized lentiginosis without systemic involvement maps to chromosome 4q21.1-q22.3.
abstract: Generalized lentiginosis (GL) is characterized by widespread lentigines without associated noncutaneous abnormalities. In this study we performed a genome-wide linkage search in a Chinese family with GL and localized the familial GL locus to chromosome 4q21.1-q22.3, with a maximum two-point LOD score of 3.01 for D4S395 and D4S423 at a recombination fraction of 0. Multipoint analysis (maximum LOD score of 5.08 between markers D4S395 and D4S1563) and haplotype construction showed strong evidence of linkage in a region of 20 Mb flanked by markers D4S2915 and D4S1560 on chromosome 4q21.1-q22.3. This is the first report of linkage for GL, and it will provide further insight into the controversy of whether GL is an entity distinct from LEOPARD syndrome.
authors.affiliation: Bio-X Life Science Research Center, Shanghai Jiao Tong University, Hao Ran Building, 1954 Hua Shan Road, Shanghai 200030, China.
authors.forename: Qinghe
authors.initials: Q
authors.lastname: Xing
authors.forename: Xiangdong
authors.initials: X
authors.lastname: Chen
authors.forename: Mingtai
authors.initials: M
authors.lastname: Wang
authors.forename: Wenjie
authors.initials: W
authors.lastname: Bai
authors.forename: Xin
authors.initials: X
authors.lastname: Peng
authors.forename: Rui
authors.initials: R
authors.lastname: Gao
authors.forename: Shengnan
authors.initials: S
authors.lastname: Wu
authors.forename: Xueqing
authors.initials: X
authors.lastname: Qian
authors.forename: Wei
authors.initials: W
authors.lastname: Qin
authors.forename: Jianjun
authors.initials: J
authors.lastname: Gao
authors.forename: Guoyin
authors.initials: G
authors.lastname: Feng
authors.forename: Lin
authors.initials: L
authors.lastname: He
mesh_terms: D002681:China; D002874:Chromosome Mapping / Q000379:methods; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D006801:Humans; D044542:LEOPARD Syndrome / Q000235:genetics; D007911:Lentigo / Q000235:genetics*; D008126:Lod Score; D010375:Pedigree