Human Genetics

, Volume 111, Issue 4, pp 401–404

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

  • Leila Salehi
  • Massimo Mangino
  • Salvatore De Serio
  • Domenico De Cicco
  • Francesca Capon
  • Sabrina Semprini
  • Antonio Pizzuti
  • Giuseppe Novelli
  • Bruno Dallapiccola
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

Authors and Affiliations

  • Leila Salehi
    • 1
  • Massimo Mangino
    • 2
  • Salvatore De Serio
    • 3
  • Domenico De Cicco
    • 3
  • Francesca Capon
    • 4
  • Sabrina Semprini
    • 4
  • Antonio Pizzuti
    • 1
  • Giuseppe Novelli
    • 4
  • Bruno Dallapiccola
    • 1
  1. 1.Department of Experimental Medicine and Pathology, University La Sapienza, Rome, Italy
  2. 2.IRCCS-CSS S, Giovanni Rotondo Casa Sollievo della Sofferenza Hospital, Mendel Institute, Viale Regina Margherita 261, 00162, Rome, Italy
  3. 3.IRCCS Fondazione "Salvatore Maugeri" Cassano M. Bari, Italy
  4. 4.Department of Biopathology and Diagnostic Imaging, Tor Vergata University of Rome, Rome, Italy