Assignment of PGL3 to chromosome 1 (q21-q23) in a family with autosomal dominant non-chromaffin paraganglioma
Autor/innen
- S. Niemann
- J. Becker-Follmann
- G. Nuernberg
- F. Rueschendorf
- N. Sieweke
- M. Huegens-Penzel
- H. Traupe
- T.F. Wienker
- A. Reis
- U. Mueller
Journal
- American Journal of Medical Genetics
Quellenangabe
- Am J Med Genet 98 (1): 32-36
Zusammenfassung
We performed a whole genome scan in a family with maternally transmitted paraganglioma (PGL3). The family included five patients with histologically proven paraganglioma and one patient with imaging findings consistent with a paraganglioma. In addition, there were 33 clinically unaffected family members. Of these eight could be examined by magnetic resonance imaging. Our investigations 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 1q21-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 genome using a total of 381 highly polymorphic markers.