Human Genetics

, Volume 116, Issue 5, pp 416–419

Molecular analysis of congenital scoliosis: a candidate gene approach

  • Melissa K. Maisenbacher
  • Ji-Soo Han
  • Megan L. O’Brien
  • Michael R. Tracy
  • Bülent Erol
  • Alyssa A. Schaffer
  • John P. Dormans
  • Elaine H. Zackai
  • Kenro Kusumi
Short Report

DOI: 10.1007/s00439-005-1253-8

Cite this article as:
Maisenbacher, M.K., Han, JS., O’Brien, M.L. et al. Hum Genet (2005) 116: 416. doi:10.1007/s00439-005-1253-8

Abstract

The etiology of congenital scoliosis is largely unknown. The severe vertebral disorder, spondylocostal dysostosis type 1, is associated with a homozygous delta-like 3 (DLL3) mutation. Scoliosis has been observed in a heterozygous DLL3 carrier, raising the possibility of its involvement in congenital scoliosis. We present the first molecular study of congenital scoliosis by analysis of the candidate gene DLL3 and demonstrate one novel missense variant. However, no novel or previously described mutations are present in our cohort, indicating that DLL3 mutations may not be a major cause of congenital scoliosis. Additionally, we have evaluated patients with congenital scoliosis not diagnosed with a known syndrome and identified a significant number of associated renal and cardiac anomalies and familial incidence of idiopathic scoliosis in this group.

Copyright information

© Springer-Verlag 2005

Authors and Affiliations

  • Melissa K. Maisenbacher
    • 1
  • Ji-Soo Han
    • 1
  • Megan L. O’Brien
    • 1
  • Michael R. Tracy
    • 1
    • 2
  • Bülent Erol
    • 2
  • Alyssa A. Schaffer
    • 2
  • John P. Dormans
    • 2
    • 3
  • Elaine H. Zackai
    • 1
    • 4
  • Kenro Kusumi
    • 1
    • 2
    • 4
  1. 1.Division of Human GeneticsThe Children’s Hospital of PhiladelphiaPhiladelphiaUSA
  2. 2.Division of Orthopaedic SurgeryThe Children’s Hospital of PhiladelphiaPhiladelphiaUSA
  3. 3.Department of Orthopaedic SurgeryUniversity of Pennsylvania, School of MedicinePhiladelphiaUSA
  4. 4.Department of PediatricsUniversity of Pennsylvania, School of MedicinePhiladelphiaUSA

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