Overview of Bardet–Biedl syndrome in Spain: identification of novel mutations in <i><scp>BBS1,</scp><scp>BBS10</scp></i> and <i><scp>BBS12</scp></i> genes

Álvarez-Satta, María; Castro-Sánchez, Sheila; Pereiro, Inés; Piñeiro-Gallego, Teresa; Baiget, Montserrat; Ayuso, Carmen; Valverde, Diana

doi:10.1111/cge.12334

Cited by 19 publications

(26 citation statements)

References 7 publications

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“…Of 37 families included, 2 of them also had an additional mutated allele in another gene: p.(Ala242Ser) ( BBS6 ) in M63 family and p.(His3882Tyr) ( ALMS1 ) in GBB23 family. All these mutations have already been described in the literature 9 24 25…”

Section: Resultsmentioning

confidence: 89%

“…This group of families represents a subset of our whole cohort, formed by 93 families with confirmed or suspected BBS which have been partially characterised at the molecular level 9 23–25…”

Section: Methodsmentioning

confidence: 99%

“…Molecular analysis of selected patients was previously performed by different approaches 9 24 25. In summary, Bardet-Biedl syndrome/Alström syndrome As per Ophthalmics genotyping microarray (Asper Biotech, Tartu, Estonia), direct sequencing of predominant BBS genes ( BBS1 , BBS10 and BBS12 ) and/or homozygosity mapping (in consanguineous families) were performed in each case.…”

Section: Methodsmentioning

confidence: 99%

“…BBS1 and BBS10 are the main genes involved, with pathogenic mutations accounting for 20–23% and 20–43%, respectively, in north European populations,3 7 where the missense mutation p.(Met390Arg) is the most recurrent allele 8. However, a recent study made by our group9 determined that the contribution of BBS10 in the Spanish cohort was 8%, significantly lower than previously published data 6 10. This fact, combined with the greater genetic heterogeneity reported suggests differences in genetic background, which may point out particularities in the phenotype of these patients.…”

Section: Introductionmentioning

confidence: 95%

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Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families

et al. 2015

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Section: Resultsmentioning

confidence: 89%

Section: Methodsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 95%

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Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families

et al. 2015

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“…First, many of the identified mutations are not overtly deleterious (i.e. frameshifts, premature stop codons or alterations at splice sites), but are represented by amino acid substitutions [Muller et al, 2010;Pereiro et al, 2010;Deveault et al, 2011;Álvarez-Satta et al, 2014;Lindstrand et al, 2014]. The evaluation of the true pathogenic impact of missense mutations is highly complicated and usually relies on the segregation analysis, various bioinformatics tools and functional assays.…”

Section: Bbs Genesmentioning

confidence: 99%

Bardet-Biedl Syndrome

Suspitsin

Imyanitov²

2016

Mol Syndromol

111

122

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Bardet-Biedl syndrome (BBS) is a rare autosomal recessive genetic disorder. It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, brachydactyly or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life. At least 20 BBS genes have already been identified, and all of them are involved in primary cilia functioning. Genetic diagnosis of BBS is complicated due to lack of gene-specific disease symptoms; however, it is gradually becoming more accessible with the invention of multigene sequencing technologies. Clinical management of BBS is largely limited to a symptomatic treatment. Mouse experiments demonstrate that the most debilitating complication of BBS, blindness, can be rescued by topical gene therapy. There is a published case report describing the delay of BBS symptoms by nutritional compensation of the disease-related biochemical deficiencies. Progress in DNA testing technologies is likely to rapidly resolve all limitations in BBS diagnosis; however, much slower improvement is expected with regard to BBS treatment.

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