Assignment of PGL3 to chromosome 1 (q21-q23) in a family with autosomal dominant non-chromaffin paraganglioma

We performed a whole genome scan in a family with maternally transmitted pa raganglioma (PGL3). The family included five patients with histologically p roven paraganglioma and one patient with imaging findings consistent with a paraganglioma. In addition, there were 33 clinically unaffected family mem bers. Of these eight could be examined by magnetic resonance imaging. Our i nvestigations indicate that PGL3 is located in 1q21-q23 for several reasons : 1) two-point linkage analysis yielded the highest LOD score of 2.25 at 1q 21-q23 (marker D1S2675); 2) haplotype analysis was most consistent for 1q21 -q23 markers; and 3) the locus was excluded from more than 97% of the genom e using a total of 381 highly polymorphic markers, Am. J. Med. Gen. 98:32-3 6, 2001. (C) 2001 Wiley-Liss, Inc.