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Molecular analysis of congenital scoliosis: a candidate gene approach

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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.

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Acknowledgments

We thank the patients and families participating in the Congenital Vertebral Malformations Study. We are also grateful to the following people for technical assistance: Vanessa Garcia, Julia Lou, Laurie Lunny, Akshay Mehta, Mizuho Mimoto, Stephan Pill, Stacey Stevens, and Yana Tsygansky. We thank Sulagna Saitta for editorial comments. K.K. is a Hitchings-Elion Fellow of the Burroughs Wellcome Fund. This work was supported by grants from the Cervical Spine Research Society, the Ethel Brown Foerderer Fund for Excellence, the General Clinical Research Center at The Children’s Hospital of Philadelphia (NIH/NCRR grant M01-RR00240), and the Florence R.C. Murray Fund.

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Correspondence to Kenro Kusumi.

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Maisenbacher, M.K., Han, JS., O’Brien, M.L. et al. Molecular analysis of congenital scoliosis: a candidate gene approach. Hum Genet 116, 416–419 (2005). https://doi.org/10.1007/s00439-005-1253-8

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  • DOI: https://doi.org/10.1007/s00439-005-1253-8

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