ArticleItalian journal of pediatrics2019
Mutation profile of BBS genes in patients with Bardet-Biedl syndrome: an Italian study.
Article in Italian journal of pediatrics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed.
- Ocular and Systemic Phenotyping of Bardet-Biedel Syndrome Type 7 (BBS7) in a Palestinian Male: Case Report and Literature Review.Case reports in ophthalmological medicine · 2026Article
- Severe obesity as an oligogenic condition: evidence from 1714 adults seeking treatment in the UK National Health Service.Human genomics · 2025Article
- Senior-Loken Syndrome: Ocular Perspectives on Genetics, Pathogenesis, and Management.Biomolecules · 2025Review
- Syndromic Retinitis Pigmentosa: A Narrative Review.Vision (Basel, Switzerland) · 2025Review
- Syndromic forms of inherited retinal dystrophies: a comprehensive molecular diagnosis of consanguineous Pakistani families using capture panel sequencing.Molecular vision · 2025Article
- Whole Genome Sequencing Solves an Atypical Form of Bardet-Biedl Syndrome: Identification of Novel Pathogenic Variants ofInternational journal of molecular sciences · 2024Article
- Oligogenic inheritance in severe adult obesity.International journal of obesity (2005) · 2024Article
- Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients.Orphanet journal of rare diseases · 2024Article
- Autosomal Recessive Rod-Cone Dystrophy with Mild Extra-Ocular Manifestations Due to a Splice-Affecting Variant inCurrent issues in molecular biology · 2024Article
- Spectrum of pathogenic variants and high prevalence of pathogenicFrontiers in genetics · 2024Article
- Phenotypic diversity observed in a Chinese patient cohort with biallelic variants in Bardet-Biedl syndrome genes.Eye (London, England) · 2023Article
- Bardet-Biedl Syndrome: Current Perspectives and Clinical Outlook.Therapeutics and clinical risk management · 2023Review
- Retinal dystrophies: A look beyond the eyes.American journal of ophthalmology case reports · 2022Article
- Article
- Generation and characterization of Ccdc28b mutant mice links the Bardet-Biedl associated gene with mild social behavioral phenotypes.PLoS genetics · 2022Article
- A case of Bardet-Biedl syndrome caused by a recurrent variant inBiomedical reports · 2021Article
- NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases.Human genetics · 2021Article
- Gene therapy rescues olfactory perception in a clinically relevant ciliopathy model of Bardet-Biedl syndrome.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2021Article
- A mouse model of BBS identifies developmental and homeostatic effects of BBS5 mutation and identifies novel pituitary abnormalities.Human molecular genetics · 2021Article
- Identification of a Novel Homozygous Missense (c.443A>T:p.N148I) Mutation inBioMed research international · 2021Article
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17 authors.
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Abstract
backgroundBardet-Biedl syndrome (BBS) is a rare inherited multisystemic disorder with autosomal recessive or complex digenic triallelic inheritance. There is currently no treatment for BBS, but some morbidities can be managed. Accurate molecular diagnosis is often crucial for the definition of appropriate patient management and for the development of a potential personalized therapy.
methodsWe developed a next-generation-sequencing (NGS) protocol for the screening of the 18 most frequently mutated genes to define the genotype and clarify the mutation spectrum of a cohort of 20 BBS Italian patients.
resultsWe defined the causative variants in 60% of patients; four of those are novel. 33% of patients also harboured variants in additional gene/s, suggesting possible oligogenic inheritance. To explore the function of different genes, we looked for correlations between genotype and phenotype in our cohort. Hypogonadism was more frequently detected in patients with variants in BBSome proteins, while renal abnormalities in patients with variations in BBSome chaperonin genes.
conclusionsNGS is a powerful tool that can help understanding BBS patients' phenotype through the identification of mutations that could explain differences in phenotype severity and could provide insights for the development of targeted therapy. Furthermore, our results support the existence of additional BBS loci yet to be identified.
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