期刊
EUROPEAN JOURNAL OF HUMAN GENETICS
卷 19, 期 4, 页码 485-488出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ejhg.2010.207
关键词
Bardet-Biedl syndrome; BBS; Alstrom syndrome; ALMS1; arrayed primer extension; mutation analysis
资金
- Alstrom Syndrome Canada
- Alstrom Syndrome International
- NIH [HD036878]
- EsRetNet
- Fondo de Investigacion Sanitaria [PI06/0049]
- Wellcome Trust
- Medical Research Council [G0801843] Funding Source: researchfish
- MRC [G0801843] Funding Source: UKRI
Bardet-Biedl syndrome (BBS; OMIM no. 209 900) and Alstrom 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. European Journal of Human Genetics (2011) 19, 485-488; doi:10.1038/ejhg.2010.207; published online 15 December 2010
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