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.
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This work was supported by grants from the national 973 and 863 Programs, the National Natural Science Foundation of China, and the Shanghai Municipal Commission for Science and Technology.
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Qinghe Xing and Xiangdong Chen contributed equally to this work
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Xing, Q., Chen, X., Wang, M. et al. A locus for familial generalized lentiginosis without systemic involvement maps to chromosome 4q21.1–q22.3. Hum Genet 117, 154–159 (2005). https://doi.org/10.1007/s00439-005-1284-1
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DOI: https://doi.org/10.1007/s00439-005-1284-1