A locus for familial generalized lentiginosis without systemic involvement maps to chromosome 4q21.1-q22.3.
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.
Xing
Qinghe
Q
Bio-X Life Science Research Center, Shanghai Jiao Tong University, Hao Ran Building, 1954 Hua Shan Road, Shanghai 200030, China.
Chen
Xiangdong
X
Wang
Mingtai
M
Bai
Wenjie
W
Peng
Xin
X
Gao
Rui
R
Wu
Shengnan
S
Qian
Xueqing
X
Qin
Wei
W
Gao
Jianjun
J
Feng
Guoyin
G
He
Lin
L
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