Abstract
ATR-X syndrome is a rare syndromic X-linked mental retardation disorder. We report that some of the patients suspected of ATR-X carry large intragenic duplications in the ATRX gene, leading to an absence of ATRX mRNA and of the protein. These findings underscore the need for including quantitative analyses to mutation analysis of the ATRX gene.
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Acknowledgements
We thank the families for their kind cooperation, Dr D Garrick (Weatherall Institute of Molecular Medicine, Oxford, UK) and I Cleynen (Department for Human Genetics, Leuven, Belgium) for the generous donation of the antibodies, and Dr F Foulquier for sharing his expertise in protein studies.
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Thienpont, B., de Ravel, T., Van Esch, H. et al. Partial duplications of the ATRX gene cause the ATR-X syndrome. Eur J Hum Genet 15, 1094–1097 (2007). https://doi.org/10.1038/sj.ejhg.5201878
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DOI: https://doi.org/10.1038/sj.ejhg.5201878
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