Gene Review:
DLL3 - delta-like 3 (Drosophila)
Homo sapiens
Synonyms:
Delta-like protein 3, Delta3, Drosophila Delta homolog 3, SCDO1
- Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis. Bulman, M.P., Kusumi, K., Frayling, T.M., McKeown, C., Garrett, C., Lander, E.S., Krumlauf, R., Hattersley, A.T., Ellard, S., Turnpenny, P.D. Nat. Genet. (2000)
- Molecular analysis of congenital scoliosis: a candidate gene approach. 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. Hum. Genet. (2005)
- Mutated MESP2 causes spondylocostal dysostosis in humans. Whittock, N.V., Sparrow, D.B., Wouters, M.A., Sillence, D., Ellard, S., Dunwoodie, S.L., Turnpenny, P.D. Am. J. Hum. Genet. (2004)
- Pseudodominant inheritance of spondylocostal dysostosis type 1 caused by two familial delta-like 3 mutations. Whittock, N.V., Ellard, S., Duncan, J., de Die-Smulders, C.E., Vles, J.S., Turnpenny, P.D. Clin. Genet. (2004)
- When body segmentation goes wrong. Pourquié, O., Kusumi, K. Clin. Genet. (2001)
- Mapping of the autosomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q21-22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia. Iughetti, P., Alonso, L.G., Wilcox, W., Alonso, N., Passos-Bueno, M.R. Am. J. Med. Genet. (2000)
- Molecular genetic prenatal diagnosis for a case of autosomal recessive spondylocostal dysostosis. Whittock, N.V., Turnpenny, P.D., Tuerlings, J., Ellard, S. Prenat. Diagn. (2003)
- 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 dysostosis. Turnpenny, P.D., Whittock, N., Duncan, J., Dunwoodie, S., Kusumi, K., Ellard, S. J. Med. Genet. (2003)