Molecular analysis of congenital scoliosis: a candidate gene approach

Maisenbacher M., Han J., O'Brien M., Tracy M., EROL B., Schaffer A., ...Daha Fazla

HUMAN GENETICS, cilt.116, sa.5, ss.416-419, 2005 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 116 Sayı: 5
  • Basım Tarihi: 2005
  • Doi Numarası: 10.1007/s00439-005-1253-8
  • Dergi Adı: HUMAN GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.416-419
  • Marmara Üniversitesi Adresli: Evet

Özet

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.