Abstract
Smith–Lemli–Opitz syndrome (SLOS) is an autosomal recessive malformation syndrome characterized by microcephaly, syndactyly of toes, ambiguous genitalia, and mental retardation. The underlying DHCR7 gene has been identified and a wide variety of distinct mutations were reported in USA and European SLOS patients. A significant difference has been suggested in the frequency of SLOS among different ethnic populations. Here, we report mutational analysis of seven Japanese SLOS patients. Five mutations, R352Q, R242H, G303R, X476Q, and S192F, were identified, and R352Q appeared most frequent, since nine out of the 13 mutations of Japanese origin were the same R352Q. These results suggest that R352Q is a predominant founder mutation in Japanese SLOS patients.
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Acknowledgements
We express our appreciation to the patients and their families for their cooperation in this study. We thank Hiromi Ikeda, Aoi Kamesako, and Taeko Jo for laboratory assistance. This work was supported by Grants-in-Aid from the Ministry of Education, Science, Sports and Culture of Japan.
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Matsumoto, Y., Morishima, Ki., Honda, A. et al. R352Q mutation of the DHCR7 gene is common among Japanese Smith–Lemli–Opitz syndrome patients. J Hum Genet 50, 353–356 (2005). https://doi.org/10.1007/s10038-005-0267-3
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DOI: https://doi.org/10.1007/s10038-005-0267-3
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