ArticleHuman genetics2011
Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.
Article in Human genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers.
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Who cites it
46 citing papers in PubMed, 95 citations in OpenAlex.
- Exome Sequencing in 9 Iranian Patients Expands the Mutational and Clinical Spectrum of Bardet-Biedl Syndrome.Biochemical genetics · 2026Article
- A novel protein truncating mutation of TTC8 causes Bardet-Biedl Syndrome (BBS) in a Pakistani family.Genetics and molecular biology · 2026Article
- Characterizing Homozygous Variants in Bardet-Biedl Syndrome-Associated Genes Within Iranian Families: Unveiling a Founder Variant in BBS2, c.471G>A.Biochemical genetics · 2025Article
- Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients.Orphanet journal of rare diseases · 2024Article
- Spectrum of pathogenic variants and high prevalence of pathogenicFrontiers in genetics · 2024Article
- Exome sequencing in a Romanian Bardet-Biedl syndrome cohort revealed an overabundance of causal BBS12 variants.American journal of medical genetics. Part A · 2023Article
- Bardet-Biedl Syndrome: Current Perspectives and Clinical Outlook.Therapeutics and clinical risk management · 2023Review
- Enhancing genomic mutation data storage optimization based on the compression of asymmetry of sparsity.Frontiers in genetics · 2023Article
- Prenatal diagnosis of Bardet‑Biedl syndrome due to novel variants in the BBS10 gene in a fetus with multiple anomalies: A case report.Experimental and therapeutic medicine · 2022Article
- Article
- Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.Orphanet journal of rare diseases · 2022Review
- Kidney failure in Bardet-Biedl syndrome.Clinical genetics · 2022Article
- Bardet-Biedl syndrome-7 (Ophthalmic genetics · 2021Article
- Novel biallelic variant in BBS9 causative of Bardet-Biedl syndrome: expanding the spectrum of disease-causing genetic alterations.BMC medical genomics · 2021Article
- A Novel BBS9 Mutation Identified via Whole-Exome Sequencing in a Chinese Family with Bardet-Biedl Syndrome.BioMed research international · 2021Article
- Deletion in the Bardet-Biedl Syndrome GeneGenes · 2020Article
- Characteristics of genotype and phenotype in Chinese patients with Bardet-Biedl syndrome.International ophthalmology · 2020Article
- Genetic variants of VDR and CYP2R1 affect BMI independently of serum vitamin D concentrations.BMC medical genetics · 2020Article
- Mutation profile of BBS genes in patients with Bardet-Biedl syndrome: an Italian study.Italian journal of pediatrics · 2019Article
- A novel compound heterozygous mutation inHuman genome variation · 2019Article
Corrections and comments
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Authors and funding
12 authors at 5 institutions in 4 countries.
Funding
Abstract
Bardet-Biedl syndrome (BBS) is a rare, primarily autosomal-recessive ciliopathy. The phenotype of this pleiotropic disease includes retinitis pigmentosa, postaxial polydactyly, truncal obesity, learning disabilities, hypogonadism and renal anomalies, among others. To date, mutations in 15 genes (BBS1-BBS14, SDCCAG8) have been described to cause BBS. The broad genetic locus heterogeneity renders mutation screening time-consuming and expensive. We applied a strategy of DNA pooling and subsequent massively parallel resequencing (MPR) to screen individuals affected with BBS from 105 families for mutations in 12 known BBS genes. DNA was pooled in 5 pools of 21 individuals each. All 132 coding exons of BBS1-BBS12 were amplified by conventional PCR. Subsequent MPR was performed on an Illumina Genome Analyzer II™ platform. Following mutation identification, the mutation carrier was assigned by CEL I endonuclease heteroduplex screening and confirmed by Sanger sequencing. In 29 out of 105 individuals (28%), both mutated alleles were identified in 10 different BBS genes. A total of 35 different disease-causing mutations were confirmed, of which 18 mutations were novel. In 12 additional families, a total of 12 different single heterozygous changes of uncertain pathogenicity were found. Thus, DNA pooling combined with MPR offers a valuable strategy for mutation analysis of large patient cohorts, especially in genetically heterogeneous diseases such as BBS.
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