title: Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome.
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.
authors.affiliation: Departamento de Bioquímica, Genética e Inmunología, Facultad de Biología, Universidad de Vigo, Vigo, Spain.
authors.forename: Ines
authors.initials: I
authors.lastname: Pereiro
authors.forename: Bethan E
authors.initials: BE
authors.lastname: Hoskins
authors.forename: Jan D
authors.initials: JD
authors.lastname: Marshall
authors.forename: Gayle B
authors.initials: GB
authors.lastname: Collin
authors.forename: Jürgen K
authors.initials: JK
authors.lastname: Naggert
authors.forename: Teresa
authors.initials: T
authors.lastname: Piñeiro-Gallego
authors.forename: Eneli
authors.initials: E
authors.lastname: Oitmaa
authors.forename: Nicholas
authors.initials: N
authors.lastname: Katsanis
authors.forename: Diana
authors.initials: D
authors.lastname: Valverde
authors.forename: Philip L
authors.initials: PL
authors.lastname: Beales
mesh_terms: D000483:Alleles; D056769:Alstrom Syndrome / Q000235:genetics*; D020788:Bardet-Biedl Syndrome / Q000235:genetics*; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000235:genetics; D005820:Genetic Testing / Q000379:methods*; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D009154:Mutation / Q000235:genetics*; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods*; D020641:Polymorphism, Single Nucleotide
chemical_list: D017931:DNA Primers