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  • Open Access

Bardet-Biedl and Alström syndromes in Spain

Cilia20121 (Suppl 1) :P107

https://doi.org/10.1186/2046-2530-1-S1-P107

  • Published:

Keywords

  • Genetic Counselling
  • Molecular Function
  • Direct Sequencing
  • Major Gene
  • Heterogeneous Nature

Bardet-Biedl (BBS, OMIM 209900) and Alström (AS, OMIM #203800) syndromes belong to a group of heterogenic disorders called ciliopathies where alterations on the cilia and the ciliary mechanisms are implicated. The genetically heterogeneous nature of BBS, with fifteen genes identified (BBS1-BBS15) to date, is also shown in the considerable inter- and intra-familial variation in the phenotype. Mutation screening of the involved genes has resulted in the identification of approximately 70% of the causative mutations, indicating that additional BBS genes have to be identified. ALMS1 is the only gene associated with the development of AS. ALMS1 encodes a novel protein, widely expressed and with unknown molecular function. We recruited 81 BBS families with 105 affected patients (44 females/ 61 males) and 5 AS families with 5 patients (4 females/ 1 male). Molecular analysis was performed using three strategies: homozygosity mapping when the family was consanguineous, BBS genotyping chip (Asper Ohthalmics), and direct sequencing. We were able to detected at least one mutation in 47% of the BBS patients. The allelic implication for the major genes in our patients was as follows: BBS1 (56%), BBS10 (20%), BBS12 (11%), BBS6 (7%), BBS3 (4%), BBS2 (1%) and BBS5 (1%). In AS patients we could detect the two responsible mutations in two families, and only one mutation in heterozygous state in a third family. The molecular study of these syndromes can be very helpful in providing a diagnosis in this patients, hence appropriate genetic counselling for families and adequate medical follow-up for affected children.

Authors’ Affiliations

(1)
University of Vigo, Spain

Copyright

© Valverde et al; licensee BioMed Central Ltd. 2012

This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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