title: [Algorithm for the molecular analysis of Bardet-Biedl syndrome in Spain].
abstract: OBJECTIVE
  Bardet-Biedl syndrome (BBS) is a multisystemic genetic disorder, which is not widespread among the Caucasian population, characterized by a highly variable phenotype and great genetic heterogeneity. BBS belongs to a group of diseases called ciliopathies, caused by defects in the structure and/or function of cilia. Due to the diagnostic complexity of the syndrome, the objective of this study was to analyse our whole group of patients in order to create an algorithm to facilitate the routine molecular diagnosis of BBS. We also calculated several epidemiological parameters in our cohort.
  
  
  METHODS
  We analysed 116 BBS patients belonging to 89 families from the whole Spanish geography. All probands fulfilled diagnosis criteria established for BBS. For this, we used: genotyping microarray, direct sequencing and homozygosis mapping (in consanguineous families).
  
  
  RESULTS
  By means of the different approaches, it was possible to diagnose 47% of families (21% by genotyping microarray, 18% by direct sequencing of predominant BBS genes, and 8% by homozygosis mapping). With regard to epidemiological data, a prevalence value of 1:407,000 was obtained for BBS in Spain, and a sex ratio of 1.4:1 (men:women).
  
  
  CONCLUSIONS
  The proposed algorithm, based on the analysis of predominant BBS genes combined with homozygosis mapping, allowed us to confirm the molecular diagnosis in a significant percentage of families with clinically suspected BBS. This diagnostic algorithm will be useful for the improvement of the efficiency of molecular analysis in BBS.
authors.affiliation: Departamento de Bioquímica, Genética e Inmunología, Facultad de Biología, Universidad de Vigo, Vigo, Pontevedra, España.
authors.forename: Sheila
authors.initials: S
authors.lastname: Castro-Sánchez
authors.affiliation: Departamento de Bioquímica, Genética e Inmunología, Facultad de Biología, Universidad de Vigo, Vigo, Pontevedra, España.
authors.forename: María
authors.initials: M
authors.lastname: Álvarez-Satta
authors.affiliation: Departamento de Bioquímica, Genética e Inmunología, Facultad de Biología, Universidad de Vigo, Vigo, Pontevedra, España.
authors.forename: Inés
authors.initials: I
authors.lastname: Pereiro
authors.affiliation: Departamento de Bioquímica, Genética e Inmunología, Facultad de Biología, Universidad de Vigo, Vigo, Pontevedra, España.
authors.forename: M Teresa
authors.initials: MT
authors.lastname: Piñeiro-Gallego
authors.affiliation: Departamento de Bioquímica, Genética e Inmunología, Facultad de Biología, Universidad de Vigo, Vigo, Pontevedra, España. Electronic address: dianaval@uvigo.es.
authors.forename: Diana
authors.initials: D
authors.lastname: Valverde
mesh_terms: D000465:Algorithms; D020788:Bardet-Biedl Syndrome / Q000453:epidemiology / Q000235:genetics*; D002923:Cilia / Q000473:pathology; D003241:Consanguinity; D005006:Ethnicity / Q000235:genetics; D005260:Female; D056726:Genetic Association Studies; D018740:Genetic Heterogeneity; D005838:Genotype; D006801:Humans; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis; D010641:Phenotype; D013030:Spain / Q000453:epidemiology
keywords: Algoritmo diagnóstico; Bardet-Biedl syndrome; Ciliopathies; Ciliopatías; Diagnosis algorithm; Prevalence; Prevalencia; Síndrome de Bardet-Biedl