A case of Bardet‑Biedl syndrome caused by a recurrent variant in<i>BBS12</i>: A case report

Focșa, Ina Ofelia; Budişteanu, Magdalena; Burloiu, Carmen; Khan, Sheraz; Sadeghpour, Azita; Bohîlțea, Laurențiu Camil; Davis, Erica E.; Bălgrădean, Mihaela

doi:10.3892/br.2021.1479

Cited by 8 publications

(11 citation statements)

References 72 publications

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“…Furthermore, F4–II:1 also displayed prominent learning disabilities, and this finding is similar to that of previous studies, 6,12,40 which reported the high penetrance of mental retardation in BBS12 phenotypes, suggesting that BBS patients with BBS12 mutations are more likely to suffer from clinical features associated with cognitive impairment.…”

Section: Discussionsupporting

confidence: 91%

Novel mutations in BBS genes and clinical characterization of Chinese families with Bardet–Biedl syndrome

Tao

Liu

Wang

et al. 2022

European Journal of Ophthalmology

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Purpose Bardet–Biedl syndrome (BBS) is a rare autosomal-recessive inherited disorder characterized by multisystem anomalies. The objective of this study was to detect and analyse pathogenic variants in four Chinese families with BBS. Methods Comprehensive clinical examinations were performed to investigate and evaluate the phenotypes of the affected individuals from four families. Genomic DNA was extracted from peripheral blood. Next-generation sequencing (NGS) was performed for four families, and the presence of pathogenic variants was confirmed via Sanger sequencing. Results There were two males and three females with a mean age of 16.00 years. All probands displayed the primary clinical features of BBS. Mutation screening demonstrated four novel mutations: c.613C>T; p.Q205* in the BBS5 gene, c.1391C>G; p.S464* in the BBS10 gene, and c.155delC; p.S52* and c.1584T>G; p.Y528* in the BBS12 gene. Two previously reported mutations were also identified, including c.534 + 1G>T in the BBS2 gene and c.539G>A; p.G180E in the BBS10 gene. The bioinformatic analysis revealed that all the detected mutations in BBS genes were disease causing. Conclusions This study identified four novel BBS gene mutations in these Chinese families and further expanded the genotypic spectrum of BBS, thus contributing to the literature and understanding of this multisystem disease.

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Section: Discussionsupporting

confidence: 91%

Novel mutations in BBS genes and clinical characterization of Chinese families with Bardet–Biedl syndrome

Tao

Liu

Wang

et al. 2022

European Journal of Ophthalmology

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“…In adulthood, obesity is mainly truncal but in childhood it is usually described as diffuse. 16,26,27 Its pathogenesis is multifactorial and includes both central and peripheral control of energy expenditure. The mechanisms are mainly based on the role of BBS proteins into the trafficking of proteins to the 1) PC or 2) to the plasma membrane.…”

Section: Obesitymentioning

confidence: 99%

Bardet-Biedl Syndrome: Current Perspectives and Clinical Outlook

Melluso¹,

Secondulfo²,

Capolongo³

et al. 2023

TCRM

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The Bardet Biedl syndrome (BBS) is a rare inherited disorder considered a model of non-motile ciliopathy. It is in fact caused by mutations of genes encoding for proteins mainly localized to the base of the cilium. Clinical features of BBS patients are widely shared with patients suffering from other ciliopathies, especially autosomal recessive syndromic disorders; moreover, mutations in cilia-related genes can cause different clinical ciliopathy entities. Besides the best-known clinical features, as retinal degeneration, learning disabilities, polydactyly, obesity and renal defects, several additional clinical signs have been reported in BBS, expanding our understanding of the complexity of its clinical spectrum. The present review aims to describe the current knowledge of BBS i) pathophysiology, ii) clinical manifestations, highlighting both the most common and the less described features, iii) current and future perspective for treatment.

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“…Generally, BBS-associated proteins are located at the base of the cilium and participate in ciliary biogenesis and in cilia function 1,32 , but a variety of specific locations and functions have been described 33,34 . In our work, the involvement of BBS proteins in a specific complex, structure, or process does not seem to be related Fig.…”

Section: Discussionmentioning

confidence: 99%

Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome

et al. 2022

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Bardet–Biedl syndrome (BBS) is an autosomal recessive ciliopathy characterized by extensive inter- and intra-familial variability, in which oligogenic interactions have been also reported. Our main goal is to elucidate the role of mutational load in the clinical variability of BBS. A cohort of 99 patients from 77 different families with biallelic pathogenic variants in a BBS-associated gene was retrospectively recruited. Human Phenotype Ontology terms were used in the annotation of clinical symptoms. The mutational load in 39 BBS-related genes was studied in index cases using different molecular and next-generation sequencing (NGS) approaches. Candidate allele combinations were analysed using the in silico tools ORVAL and DiGePred. After clinical annotation, 76 out of the 99 cases a priori fulfilled established criteria for diagnosis of BBS or BBS-like. BBS1 alleles, found in 42% of families, were the most represented in our cohort. An increased mutational load was excluded in 41% of the index cases (22/54). Oligogenic inheritance was suspected in 52% of the screened families (23/45), being 40 tested by means of NGS data and 5 only by traditional methods. Together, ORVAL and DiGePred platforms predicted an oligogenic effect in 44% of the triallelic families (10/23). Intrafamilial variable severity could be clinically confirmed in six of the families. Our findings show that the presence of more than two alleles in BBS-associated genes correlated in six families with a more severe phenotype and associated with specific findings, highlighting the role of the mutational load in the management of BBS cases.

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A case of Bardet‑Biedl syndrome caused by a recurrent variant inBBS12: A case report

Cited by 8 publications

References 72 publications

Novel mutations in BBS genes and clinical characterization of Chinese families with Bardet–Biedl syndrome

Novel mutations in BBS genes and clinical characterization of Chinese families with Bardet–Biedl syndrome

Bardet-Biedl Syndrome: Current Perspectives and Clinical Outlook

Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome

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