Exome sequencing in a Romanian Bardet‐Biedl syndrome cohort revealed an overabundance of causal BBS12 variants
Article Swipe
Sheraz Khan
,
Ina Ofelia Focșa
,
Magdalena Budișteanu
,
Cristina Stoica
,
Florina Mihaela Nedelea
,
Laurențiu Camil Bohîlțea
,
Lavinia Caba
,
Lăcrămioara Ionela Butnariu
,
Monica-Cristina Pânzaru
,
Cristina Rusu
,
Claudia Jurcă
,
Adela Chiriţă-Emandi
,
Claudia Bănescu
,
Wasim Abbas
,
Azita Sadeghpour
,
Shahid Mahmood Baig
,
Mihaela Bălgrădean
,
Erica E. Davis
·
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.1002/ajmg.a.63322
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.1002/ajmg.a.63322
Bardet‐Biedl syndrome (BBS), is an emblematic ciliopathy hallmarked by pleiotropy, phenotype variability, and extensive genetic heterogeneity. BBS is a rare (~1/140,000 to ~1/160,000 in Europe) autosomal recessive pediatric disorder characterized by retinal degeneration, truncal obesity, polydactyly, cognitive impairment, renal dysfunction, and hypogonadism. Twenty‐eight genes involved in ciliary structure or function have been implicated in BBS, and explain the molecular basis for ~75%–80% of individuals. To investigate the mutational spectrum of BBS in Romania, we ascertained a cohort of 24 individuals in 23 families. Following informed consent, we performed proband exome sequencing (ES). We detected 17 different putative disease‐causing single nucleotide variants or small insertion–deletions and two pathogenic exon disruptive copy number variants in known BBS genes in 17 pedigrees. The most frequently impacted genes were BBS12 (35%), followed by BBS4 , BBS7 , and BBS10 (9% each) and BBS1 , BBS2 , and BBS5 (4% each). Homozygous BBS12 p.Arg355* variants were present in seven pedigrees of both Eastern European and Romani origin. Our data show that although the diagnostic rate of BBS in Romania is likely consistent with other worldwide cohorts (74%), we observed a unique distribution of causal BBS genes, including overrepresentation of BBS12 due to a recurrent nonsense variant, that has implications for regional diagnostics.
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Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1002/ajmg.a.63322
- OA Status
- hybrid
- Cited By
- 10
- References
- 89
- Related Works
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- OpenAlex ID
- https://openalex.org/W4379966626
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Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4379966626Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1002/ajmg.a.63322Digital Object Identifier
- Title
-
Exome sequencing in a Romanian
Bardet‐Biedl syndrome cohort revealed an overabundance of causalBBS12 variantsWork title - Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2023Year of publication
- Publication date
-
2023-06-09Full publication date if available
- Authors
-
Sheraz Khan, Ina Ofelia Focșa, Magdalena Budișteanu, Cristina Stoica, Florina Mihaela Nedelea, Laurențiu Camil Bohîlțea, Lavinia Caba, Lăcrămioara Ionela Butnariu, Monica-Cristina Pânzaru, Cristina Rusu, Claudia Jurcă, Adela Chiriţă-Emandi, Claudia Bănescu, Wasim Abbas, Azita Sadeghpour, Shahid Mahmood Baig, Mihaela Bălgrădean, Erica E. DavisList of authors in order
- Landing page
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https://doi.org/10.1002/ajmg.a.63322Publisher landing page
- Open access
-
YesWhether a free full text is available
- OA status
-
hybridOpen access status per OpenAlex
- OA URL
-
https://doi.org/10.1002/ajmg.a.63322Direct OA link when available
- Concepts
-
Bardet–Biedl syndrome, Ciliopathy, Genetics, Exome sequencing, Polydactyly, Biology, Genetic heterogeneity, Copy-number variation, Proband, Allelic heterogeneity, Disease gene identification, Phenotype, Gene, Mutation, GenomeTop concepts (fields/topics) attached by OpenAlex
- Cited by
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10Total citation count in OpenAlex
- Citations by year (recent)
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2025: 7, 2024: 2, 2023: 1Per-year citation counts (last 5 years)
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89Number of works referenced by this work
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10Other works algorithmically related by OpenAlex
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