ArticleJournal of human genetics2020
Bardet-Biedl syndrome and related disorders in Japan.
Article in Journal of human genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.
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Who cites it
8 citing papers in PubMed, 1 synthesis or guideline pooled it, 12 citations in OpenAlex.
- Genotype-phenotype associations in Alström syndrome: a systematic review and meta-analysis.Journal of medical genetics · 2023Pooled it
- A deep intronic IFT172 variant causing pseudoexon inclusion identified by whole-genome sequencing in nephronophthisis.CEN case reports · 2026Article
- Non-coding repeat analyses in patients with Parkinson's disease.Frontiers in neurology · 2025Article
- Bardet-Biedl syndrome associated with novel compound heterozygous variants in BBS12 gene.Documenta ophthalmologica. Advances in ophthalmology · 2023Article
- CEP19-RABL2-IFT-B axis controls BBSome-mediated ciliary GPCR export.Molecular biology of the cell · 2022Article
- Molecular basis underlying the ciliary defects caused byMolecular biology of the cell · 2022Article
- Multiallelic Rare Variants in BBS Genes Support an Oligogenic Ciliopathy in a Non-obese Juvenile-Onset Syndromic Diabetic Patient: A Case Report.Frontiers in genetics · 2021Article
- Retinitis Pigmentosa and Polydactyly in a Patient with a Heterozygous Mutation on the BBS1 Gene.International medical case reports journal · 2021Article
Corrections and comments
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Authors and funding
9 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder characterized by obesity, mental impairment, rod-cone dystrophy, polydactyly, male hypogonadism, and renal abnormalities. This disorder is caused by mutations in BBS1-21. Alström syndrome (AS), caused solely by mutations in ALMS1, is another genetic obesity syndrome clinically similar to BBS. We previously conducted the first nationwide survey of BBS in Japan and found four patients with genetically definite BBS. In this study, exome analyses were performed on new patients whose symptoms fulfilled the diagnostic criteria for BBS. We identified one reported heterozygous mutation in BBS1 (p.R429*) in one patient, two novel mutations (p.L493R and p.H719Y) in BBS20 in a second patient, and one novel mutation (p.Q920*) and one reported mutation (p.R2928*) in ALMS1 in a third patient, who was subsequently diagnosed with AS. The first patient with BBS was previously considered to have digenic heterozygous mutations in BBS1 and BBS4. RT-PCR and long-range genomic PCR analyses identified a new heterozygous mutation in BBS1, the deletion of exons 10 and 11. Thus, this patient was compound heterozygous for mutations in BBS1. Many studies have described digenic heterozygous mutations in BBS. However, undetected mutations might have existed in either one of the mutated genes.
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Registered trials
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