¹Institut für Medizinische Biologie und Humangenetik der Universität Innsbruck, Austria

²Max-Planck Institute of Molecular Genetics, Berlin, Germany

^aCorrespondence: Dr Hans-Christoph Duba, Institut für Medizinische Biologie und Humangenetik der Universität Innsbruck, Schöpfstrae 41, A-6020, Innsbruck. Tel: +43 512 507 3465 (3451), Fax: +43 512 507 2861, e-mail: hans-chritoph.duba@uibk.ac.at

Nail patella syndrome (NPS) is an autosomal dominant disorder characterized by dysplasia of the nails and patella, decreased mobility of the elbow, iliac horns and in some cases nephropathy. Linkage studies have localized the NPS locus to chromosome 9q34 within a 1-2 cM interval between D9S60 and the adenylate kinase gene (AK1), but the gene has remained elusive. We have identified a balanced t(9;17)(q34.1;q25) associated with NPS. By using FISH with probes from 9q the breakpoint region was narrowed to a 17.0 cM interval between D9S262 and ABL, which includes the NPS critical region. The patient showed the typical clinical features of NPS such as hypoplastic, deep-set nails, a dislocated elbow, iliac horns, and a polygonal patella. This suggests that the translocation has resulted from a break within or near the NPS gene, causing defective expression. The translocation in our patient may aid in the identification of the NPS gene.

NPS; nail patella syndrome; balanced translocation