Abstract
We report a family heterozygous for a newly identified mutation in the tyrosine kinase I domain of the FGFR2 gene (1576A>G, encoding the missense substitution Lys526Glu), associated with variable expressivity of Crouzon syndrome, including clinical nonpenetrance. Our observations expand both the clinical and molecular spectrum of this unusual subset of FGFR2 mutations.
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We thank the family for their help with this study, and the Wellcome Trust for financial support (AOMW).
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de Ravel, T., Taylor, I., Van Oostveldt, A. et al. A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome. Eur J Hum Genet 13, 503–505 (2005). https://doi.org/10.1038/sj.ejhg.5201325
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DOI: https://doi.org/10.1038/sj.ejhg.5201325
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