Abstract
Bardet–Biedl syndrome (BBS; OMIM no. 209 900) and Alström syndrome (ALMS; OMIM no. 203 800) are rare, multisystem genetic disorders showing both a highly variable phenotype and considerable phenotypic overlap; they are included in the emerging group of diseases called ciliopathies. The genetic heterogeneity of BBS with 14 causal genes described to date, serves to further complicate mutational analysis. The development of the BBS–ALMS array which detects known mutations in these genes has allowed us to detect at least one mutation in 40.5% of BBS families and in 26.7% of ALMS families validating this as an efficient and cost-effective first pass screening modality. Furthermore, using this method, we found two BBS families segregating three BBS alleles further supporting oligogenicity or modifier roles for additional mutations. We did not observe more than two mutations in any ALMS family.
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Acknowledgements
We thank the BBS and ALMS patients reported here for their willing and continued co-operation in this study. We are grateful to the staff of Asper Biotech, particularly Eneli Oitmaa and Tiina Kantsik for help in the validation stages of the array. We thank Alström Syndrome Canada, Alström Syndrome International, NIH-HD036878 (JDM, GBC, JKN), EsRetNet, Fondo de Investigación Sanitaria (PI06/0049; DV) and Wellcome Trust (PLB) for research support.
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Pereiro, I., Hoskins, B., Marshall, J. et al. Arrayed primer extension technology simplifies mutation detection in Bardet–Biedl and Alström syndrome. Eur J Hum Genet 19, 485–488 (2011). https://doi.org/10.1038/ejhg.2010.207
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DOI: https://doi.org/10.1038/ejhg.2010.207
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