ArticleScientific reports2016
Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum.
Article in Scientific reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 39 citations in OpenAlex.
- Article
- Should GLP-1 receptor agonist therapy be used to treat obesity in Bardet-Biedl syndrome?The Journal of clinical investigation · 2025Article
- Pharmaceutical inhibition of the Chk2 kinase mitigates cone photoreceptor degeneration in an iPSC model of Bardet-Biedl syndrome.iScience · 2025Article
- Primary Amenorrhea in a 15-Year-Old Girl Leading to the Diagnosis of Bardet-Biedl Syndrome: A Case Report.Clinical case reports · 2025Article
- Potential Involvements of Cilia-Centrosomal Genes in Primary Congenital Glaucoma.International journal of molecular sciences · 2024Article
- Phenotypic diversity observed in a Chinese patient cohort with biallelic variants in Bardet-Biedl syndrome genes.Eye (London, England) · 2023Article
- A novel pathogenic variant ofPediatric investigation · 2023Article
- Biallelic variants in CEP164 cause a motile ciliopathy-like syndrome.Clinical genetics · 2023Article
- Article
- Bangladeshi Case Series of Bardet-Biedl Syndrome.Case reports in ophthalmological medicine · 2023Article
- Deletion of CEP164 in mouse photoreceptors post-ciliogenesis interrupts ciliary intraflagellar transport (IFT).PLoS genetics · 2022Article
- Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project.Journal of medical genetics · 2022Article
- Review
- Molecular mechanisms underlying the role of the centriolar CEP164-TTBK2 complex in ciliopathies.Structure (London, England : 1993) · 2022Article
- The Role of Centrosome Distal Appendage Proteins (DAPs) in Nephronophthisis and Ciliogenesis.International journal of molecular sciences · 2021Review
- Loss of the ciliary protein Chibby1 in mice leads to exocrine pancreatic degeneration and pancreatitis.Scientific reports · 2021Article
- Identification of a Novel Homozygous Missense (c.443A>T:p.N148I) Mutation inBioMed research international · 2021Article
- Article
- Article
- Bardet-Biedl Syndrome Caused by Skipping of SCLT1 Complicated by Microvesicular Steatohepatitis.Internal medicine (Tokyo, Japan) · 2020Article
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Authors and funding
19 authors at 8 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder that is both genetically and clinically heterogeneous. To date 19 genes have been associated with BBS, which encode proteins active at the primary cilium, an antenna-like organelle that acts as the cell's signaling hub. In the current study, a combination of mutation screening, targeted sequencing of ciliopathy genes associated with BBS, and whole-exome sequencing was used for the genetic characterization of five families including four with classic BBS symptoms and one BBS-like syndrome. This resulted in the identification of novel mutations in BBS genes ARL6 and BBS5, and recurrent mutations in BBS9 and CEP164. In the case of CEP164, this is the first report of two siblings with a BBS-like syndrome with mutations in this gene. Mutations in this gene were previously associated with nephronophthisis 15, thus the current results expand the CEP164-associated phenotypic spectrum. The clinical and genetic spectrum of BBS and BBS-like phenotypes is not fully defined in Pakistan. Therefore, genetic studies are needed to gain insights into genotype-phenotype correlations, which will in turn improve the clinician's ability to make an early and accurate diagnosis, and facilitate genetic counseling, leading to directly benefiting families with affected individuals.
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