Human Genetics

, Volume 111, Issue 4, pp 401–404

Assignment of a locus for autosomal dominant idiopathic scoliosis (IS) to human chromosome 17p11

Authors

  • Leila Salehi
    • Department of Experimental Medicine and Pathology, University La Sapienza, Rome, Italy
  • Massimo Mangino
    • IRCCS-CSS S, Giovanni Rotondo Casa Sollievo della Sofferenza Hospital, Mendel Institute, Viale Regina Margherita 261, 00162, Rome, Italy
  • Salvatore De Serio
    • IRCCS Fondazione "Salvatore Maugeri" Cassano M. Bari, Italy
  • Domenico De Cicco
    • IRCCS Fondazione "Salvatore Maugeri" Cassano M. Bari, Italy
  • Francesca Capon
    • Department of Biopathology and Diagnostic Imaging, Tor Vergata University of Rome, Rome, Italy
  • Sabrina Semprini
    • Department of Biopathology and Diagnostic Imaging, Tor Vergata University of Rome, Rome, Italy
  • Antonio Pizzuti
    • Department of Experimental Medicine and Pathology, University La Sapienza, Rome, Italy
  • Giuseppe Novelli
    • Department of Biopathology and Diagnostic Imaging, Tor Vergata University of Rome, Rome, Italy
  • Bruno Dallapiccola
    • Department of Experimental Medicine and Pathology, University La Sapienza, Rome, Italy
Original Investigation

DOI: 10.1007/s00439-002-0785-4

Cite this article as:
Salehi, L., Mangino, M., De Serio, S. et al. Hum Genet (2002) 111: 401. doi:10.1007/s00439-002-0785-4

Abstract.

Idiopathic scoliosis (IS) is a spine deformity of unknown etiology. Family studies have suggested that IS may be inherited as a mendelian autosomal dominant trait. We have performed linkage analysis on a three-generation IS Italian family. A positive LOD score value of 3.20 at θ=0.00 was detected with marker D17S799 after a genome-wide scanning. Analysis of six flanking microsatellites confirmed the linkage and haplotype inspection defined an interval of about 20 cM between D17S947 and D17S798. This is the first locus reported for IS. We scored genes mapping in this interval and studied the heparan sulfotransferase genes as candidates on the basis of their biochemical role. No causative mutation was detected in the affected patients.

Copyright information

© Springer-Verlag 2002