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

Ines Pereiro, Bethan E. Hoskins, Jan D. Marshall, Gayle B. Collin, Jürgen K. Naggert, Teresa Pĩeiro-Gallego, Eneli Oitmaa, Elias Nicholas Katsanis, Diana Valverde*, Philip L. Beales

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

33 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)485-488
Number of pages4
JournalEuropean Journal of Human Genetics
Volume19
Issue number4
DOIs
StatePublished - Apr 2011

Keywords

  • ALMS1
  • Alström syndrome
  • BBS
  • Bardet-Biedl syndrome
  • arrayed primer extension
  • mutation analysis

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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