Birt-Hogg-Dube syndrome: mapping of a novel hereditary neoplasia gene to chromosome 17p12-q11.2

Birt-Hogg-Dube syndrome (BHD) is an autosomal dominant neoplasia syndrome c haracterized mainly by benign skin tumors, and to a lesser extent, renal tu mors and spontaneous pneumothorax. To map the BHD locus, we performed a gen ome-wide linkage analysis using polymorphic microsatellite markers on a lar ge Swedish BHD family. Evidence of linkage was identified on chromosome 17p 12-q11.2, with a maximum LOD score of 3.58 for marker D17S1852. Further hap lotype analysis defined a similar to 35 cm candidate interval between the t wo flanking markers, D17S1791 and D17S798. This information will facilitate the identification of the BHD gene, leading to the understanding of its un derlying molecular etiology.