POSTER PRESENTATION Open Access Bardet-Biedl and Alström syndromes in Spain D Valverde * , T Piñeiro-Gallego, I Pereiro From First International Cilia in Development and Disease Scientific Conference (2012) London, UK. 16-18 May 2012 Bardet-Biedl (BBS, OMIM 209900) and Alström (AS, OMIM #203800) syndromes belong to a group of hetero- genic 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 pro- tein, widely expressed and with unknown molecular func- tion. 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 per- formed 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 heterozy- gous 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. Published: 16 November 2012 doi:10.1186/2046-2530-1-S1-P107 Cite this article as: Valverde et al.: Bardet-Biedl and Alström syndromes in Spain. Cilia 2012 1(Suppl 1):P107. Submit your next manuscript to BioMed Central and take full advantage of: • Convenient online submission • Thorough peer review • No space constraints or color ﬁgure charges • Immediate publication on acceptance • Inclusion in PubMed, CAS, Scopus and Google Scholar • Research which is freely available for redistribution Submit your manuscript at www.biomedcentral.com/submit * Correspondence: [email protected] University of Vigo, Spain Valverde et al. Cilia 2012, 1(Suppl 1):P107 http://www.ciliajournal.com/content/1/S1/P107 © 2012 Valverde et al; licensee 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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Page 1: Bardet-Biedl and Alström syndromes in Spain

POSTER PRESENTATION Open Access

Bardet-Biedl and Alström syndromes in SpainD Valverde*, T Piñeiro-Gallego, I Pereiro

From First International Cilia in Development and Disease Scientific Conference (2012)London, UK. 16-18 May 2012

Bardet-Biedl (BBS, OMIM 209900) and Alström (AS,OMIM #203800) syndromes belong to a group of hetero-genic disorders called ciliopathies where alterations onthe cilia and the ciliary mechanisms are implicated.The genetically heterogeneous nature of BBS, with fifteengenes identified (BBS1-BBS15) to date, is also shown inthe considerable inter- and intra-familial variation in thephenotype. Mutation screening of the involved genes hasresulted in the identification of approximately 70% of thecausative mutations, indicating that additional BBS geneshave to be identified. ALMS1 is the only gene associatedwith the development of AS. ALMS1 encodes a novel pro-tein, widely expressed and with unknown molecular func-tion. We recruited 81 BBS families with 105 affectedpatients (44 females/ 61 males) and 5 AS families with 5patients (4 females/ 1 male). Molecular analysis was per-formed using three strategies: homozygosity mappingwhen the family was consanguineous, BBS genotypingchip (Asper Ohthalmics), and direct sequencing. We wereable to detected at least one mutation in 47% of the BBSpatients. The allelic implication for the major genes in ourpatients 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 muta-tions in two families, and only one mutation in heterozy-gous state in a third family. The molecular study of thesesyndromes can be very helpful in providing a diagnosis inthis patients, hence appropriate genetic counselling forfamilies and adequate medical follow-up for affectedchildren.

Published: 16 November 2012

doi:10.1186/2046-2530-1-S1-P107Cite this article as: Valverde et al.: Bardet-Biedl and Alström syndromesin Spain. Cilia 2012 1(Suppl 1):P107.

Submit your next manuscript to BioMed Centraland take full advantage of:

• Convenient online submission

• Thorough peer review

• No space constraints or color figure charges

• Immediate publication on acceptance

• Inclusion in PubMed, CAS, Scopus and Google Scholar

• Research which is freely available for redistribution

Submit your manuscript at www.biomedcentral.com/submit* Correspondence: [email protected]

University of Vigo, Spain

Valverde et al. Cilia 2012, 1(Suppl 1):P107http://www.ciliajournal.com/content/1/S1/P107

© 2012 Valverde et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the CreativeCommons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, andreproduction in any medium, provided the original work is properly cited.

mailto:[email protected]

http://creativecommons.org/licenses/by/2.0