作者: Timothy D. Howard , William A. Paznekas , Eric D. Green , Lydia C. Chiang , Nancy Ma
DOI: 10.1038/NG0197-36
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摘要: Saethre-Chotzen syndrome is one of the most common autosomal dominant disorders craniosynostosis in humans and characterized by craniofacial limb anomalies. The locus for maps to chromosome 7p21–p22. We have evaluated TWIST, a basic helix–loop–helix transcription factor, as candidate gene this condition because its expression pattern mutant phenotypes Drosophila mouse are consistent with phenotype. mapped TWIST human 7p21–p22 mutational analysis reveals nonsense, missense, insertion deletion mutations patients. These occur within DNA binding, helix I loop domains, or result premature termination protein. Studies indicate that twist may affect fibroblast growth factor receptors (FGFRs), another family implicated craniosynostosis. emerging cascade molecular components involved development now includes which function an upstream regulator FGFRs.