Molecular analysis of congenital scoliosis: a candidate gene approach
- 17 February 2005
- journal article
- Published by Springer Nature in Human Genetics
- Vol. 116 (5) , 416-419
- https://doi.org/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.Keywords
This publication has 6 references indexed in Scilit:
- Congenital Scoliosis and Vertebral MalformationsJournal of Pediatric Orthopaedics, 2004
- Congenital scoliosis and vertebral malformations: characterization of segmental defects for genetic analysis.2004
- Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosisJournal of Medical Genetics, 2003
- Idiopathic Scoliosis in Families of Children With Congenital ScoliosisPublished by Wolters Kluwer Health ,2002
- When body segmentation goes wrongClinical Genetics, 2001
- Mutations in the human Delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosisNature Genetics, 2000