TWIST1
Basic helix-loop-helix transcription factor.
Pathology
Autosomal dominant mutation in Twist1 gene
- Saethre-Chotzen syndrome with limb and craniofacial defects (MIM.101400)
- Baller-Gerold syndrome (MIM.218600) with cranial synostosis and unilateral radial aplasia
- Robinow-Sorauf syndrome (MIM.180750)
References
Howard, T. D.; Paznekas, W. A.; Green, E. D.; Chiang, L. C.; Ma, N.; Ortiz De Luna, R. I.; Delgado, C. G.; Gonzalez-Ramos, M.; Kline, A. D.; Jabs, E. W. : Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. Nature Genet. 15: 36-41, 1997. PubMed ID : #8988166#
Johnson, D.; Horsley, S. W.; Moloney, D. M.; Oldridge, M.; Twigg, S. R. F.; Walsh, S.; Barrow, M.; Njolstad, P. R.; Kunz, J.; Ashworth, G. J.; Wall, S. A.; Kearney, L.; Wilkie, A. O. M. : A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1. Am. J. Hum. Genet. 63: 1282-1293, 1998. PubMed ID : #9792856#