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

Research output: Contribution to journalArticle

47 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)416-419
Number of pages4
JournalHuman Genetics
Volume116
Issue number5
DOIs
StatePublished - Apr 1 2005
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Maisenbacher, M. K., Han, J. S., O'Brien, M. L., Tracy, M. R., Erol, B., Schaffer, A. A., Dormans, J. P., Zackai, E. H., & Kusumi, K. (2005). Molecular analysis of congenital scoliosis: A candidate gene approach. Human Genetics, 116(5), 416-419. https://doi.org/10.1007/s00439-005-1253-8