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Eur J Hum Genet. 2011 Apr;19(4):485-8. doi: 10.1038/ejhg.2010.207. Epub 2010 Dec 15.

Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome.

Author information

1
Departamento de Bioquímica, Genética e Inmunología, Facultad de Biología, Universidad de Vigo, Vigo, Spain.

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.

PMID:
21157496
PMCID:
PMC3060323
DOI:
10.1038/ejhg.2010.207
[Indexed for MEDLINE]
Free PMC Article

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