A forkhead-domain gene is mutated in a severe speech and language disorder (original) (raw)

References

1. Bishop, D. V. M., North, T. & Donlan, C. Genetic basis for specific language impairment: evidence from a twin study. Dev. Med. Child Neurol. 37, 56–71 (1995).
   Article CAS PubMed Google Scholar
2. Tomblin, J. B. & Buckwalter, P. R. Heritability of poor language achievement among twins. J. Speech Lang. Hear. Res. 41, 188–199 (1998).
   Article CAS PubMed Google Scholar
3. Dale, P. S. et al. Genetic influence on language delay in two-year-old children. Nature Neurosci. 1, 324–328 (1998).
   Article CAS PubMed Google Scholar
4. Hurst, J. A., Baraitser, M., Auger, E., Graham, F. & Norell, S. An extended family with a dominantly inherited speech disorder. Dev. Med. Child Neurol. 32, 347–355 (1990).
   Google Scholar
5. Fisher, S. E., Vargha-Khadem, F., Watkins, K. E., Monaco, A. P. & Pembrey, M. E. Localization of a gene implicated in a severe speech and language disorder. Nature Genet. 18, 168–170 (1998).
   Article CAS PubMed Google Scholar
6. Lai, C. S. L. et al. The SPCH1 region on human 7q31: genomic characterization of the critical interval and localization of translocations associated with speech and language disorder. Am. J. Hum. Genet. 67, 357–368 (2000).
   Article CAS PubMed PubMed Central Google Scholar
7. Gopnik, M. & Crago, M. B. Familial aggregation of a developmental language disorder. Cognition 39, 1–50 (1991).
   Article CAS PubMed Google Scholar
8. Vargha-Khadem, F., Watkins, K., Alcock, K., Fletcher, P. & Passingham, R. Praxic and nonverbal cognitive deficits in a large family with a genetically transmitted speech and language disorder. Proc. Natl Acad. Sci. USA 92, 930–933 (1995).
   Article ADS CAS PubMed PubMed Central Google Scholar
9. Vargha-Khadem, F. et al. Neural basis of an inherited speech and language disorder. Proc. Natl Acad. Sci. USA 95, 12695–12700 (1998).
   Article ADS CAS PubMed PubMed Central Google Scholar
10. Margolis, R. L. et al. cDNAs with long CAG trinucleotide repeats from human brain. Hum. Genet. 100, 114–122 (1997).
    Article CAS PubMed Google Scholar
11. Lai, E., Clark, K. L., Burley, S. K. & Darnell, J. E. Jr Hepatocyte nuclear factor 3/fork head or “winged helix” proteins: a family of transcription factors of diverse biologic function. Proc. Natl Acad. Sci. USA 90, 10421–10423 (1993).
    Article ADS CAS PubMed PubMed Central Google Scholar
12. Li, C. & Tucker, P. W. DNA-binding properties and secondary structural model of the hepatocyte nuclear factor 3/fork head domain. Proc. Natl Acad. Sci. USA 90, 11583–11587 (1993).
    Article ADS CAS PubMed PubMed Central Google Scholar
13. Kaufmann, E. & Knöchel, W. Five years on the wings of fork head. Mech. Dev. 57, 3–20 (1996).
    Article CAS PubMed Google Scholar
14. Kaestner, K. H., Knöchel, W. & Martinez, D. E. Unified nomenclature for the winged helix/forkhead transcription factors. Genes Dev. 14, 142–146 (2000).
    Article CAS PubMed Google Scholar
15. Shu, W., Yang, H., Zhang, L., Lu, M. M. & Morrisey, E. E. Characterization of a new subfamily of winged-helix/forkhead (fox) genes that are expressed in the lung and act as transcriptional repressors. J. Biol. Chem. 276, 27488–27497 (2001).
    Article CAS PubMed Google Scholar
16. Clark, K. L., Halay, E. D., Lai, E. & Burley, S. K. Co-crystal structure of the HNF-3/fork head DNA-recognition motif resembles histone H5. Nature 364, 412–420 (1993).
    Article ADS CAS PubMed Google Scholar
17. Nishimura, D. Y. et al. The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25. Nature Genet. 19, 140–147 (1998).
    Article CAS PubMed Google Scholar
18. Mears, A. J. et al. Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld–Rieger anomaly. Am. J. Hum. Genet. 63, 1316–1328 (1998).
    Article CAS PubMed PubMed Central Google Scholar
19. Clifton-Bligh, R. J. et al. Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia. Nature Genet. 19, 399–401 (1998).
    Article CAS PubMed Google Scholar
20. Fang, J. et al. Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema–distichiasis syndrome. Am. J. Hum. Genet. 67, 1382–1388 (2000).
    Article CAS PubMed PubMed Central Google Scholar
21. Crisponi, L. et al. The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. Nature Genet. 27, 159–166 (2001).
    Article CAS PubMed Google Scholar
22. Semina, E. V., Brownell, I., Mintz-Hittner, H. A., Murray, J. C. & Jamrich, M. Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts. Hum. Mol. Genet. 10, 231–236 (2001).
    Article CAS PubMed Google Scholar
23. Wildin, R. S. et al. X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy. Nature Genet. 27, 18–20 (2001).
    Article CAS PubMed Google Scholar
24. Bennett, C. L. et al. The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3. Nature Genet. 27, 20–21 (2001).
    Article CAS PubMed Google Scholar
25. Brunkow, M. E. et al. Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse. Nature Genet. 27, 68–73 (2001).
    Article CAS PubMed Google Scholar
26. De Felice, M. et al. A mouse model for hereditary thyroid dysgenesis and cleft palate. Nature Genet. 19, 395–398 (1998).
    Article CAS PubMed Google Scholar
27. Smith, R. S. et al. Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development. Hum. Mol. Genet. 9, 1021–1032 (2000).
    Article CAS PubMed Google Scholar
28. Lehmann, O. J. et al. Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma. Am. J. Hum. Genet. 67, 1129–1135 (2000).
    Article CAS PubMed PubMed Central Google Scholar
29. Nishimura, D. Y. et al. A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye. Am. J. Hum. Genet. 68, 364–372 (2001).
    Article CAS PubMed PubMed Central Google Scholar
30. Cummings, C. J. & Zoghbi, H. Y. Fourteen and counting: unraveling trinucleotide repeat diseases. Hum. Mol. Genet. 9, 909–916 (2000).
    Article CAS PubMed Google Scholar

Download references