ArticleAmerican journal of human genetics2014
Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome.
Article in American journal of human genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers.
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49 citing papers in PubMed, 87 citations in OpenAlex.
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- Senior-Loken Syndrome: Ocular Perspectives on Genetics, Pathogenesis, and Management.Biomolecules · 2025Review
- Genome sequencing as a generic diagnostic strategy for rare disease.Genome medicine · 2024Article
- Spectrum of pathogenic variants and high prevalence of pathogenicFrontiers in genetics · 2024Article
- Exome sequencing in a Romanian Bardet-Biedl syndrome cohort revealed an overabundance of causal BBS12 variants.American journal of medical genetics. Part A · 2023Article
- Review
- Organization, functions, and mechanisms of the BBSome in development, ciliopathies, and beyond.eLife · 2023Review
- Systematic assessment of the contribution of structural variants to inherited retinal diseases.Human molecular genetics · 2023Article
- Variable phenotypes and penetrance between and within different zebrafish ciliary transition zone mutants.Disease models & mechanisms · 2022Article
- Multidisciplinary approaches for elucidating genetics and molecular pathogenesis of urinary tract malformations.Kidney international · 2022Review
- Insights Gained From Zebrafish Models for the Ciliopathy Joubert Syndrome.Frontiers in genetics · 2022Review
- A case of Bardet-Biedl syndrome caused by a recurrent variant inBiomedical reports · 2021Article
- Clinical and genetic heterogeneity of primary ciliopathies (Review).International journal of molecular medicine · 2021Review
- Novel biallelic variant in BBS9 causative of Bardet-Biedl syndrome: expanding the spectrum of disease-causing genetic alterations.BMC medical genomics · 2021Article
- Bardet-Biedl Syndrome ciliopathy is linked to altered hematopoiesis and dysregulated self-tolerance.EMBO reports · 2021Article
- Novel Compound HeterozygousJournal of ophthalmology · 2021Article
- Genetic Determinants of Childhood Obesity.Molecular diagnosis & therapy · 2020Review
- Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy.Nature genetics · 2020Article
- CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Deletion in the Bardet-Biedl Syndrome GeneGenes · 2020Article
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17 authors at 6 institutions in 3 countries.
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Abstract
Homozygosity for a recurrent 290 kb deletion of NPHP1 is the most frequent cause of isolated nephronophthisis (NPHP) in humans. A deletion of the same genomic interval has also been detected in individuals with Joubert syndrome (JBTS), and in the mouse, Nphp1 interacts genetically with Ahi1, a known JBTS locus. Given these observations, we investigated the contribution of NPHP1 in Bardet-Biedl syndrome (BBS), a ciliopathy of intermediate severity. By using a combination of array-comparative genomic hybridization, TaqMan copy number assays, and sequencing, we studied 200 families affected by BBS. We report a homozygous NPHP1 deletion CNV in a family with classical BBS that is transmitted with autosomal-recessive inheritance. Further, we identified heterozygous NPHP1 deletions in two more unrelated persons with BBS who bear primary mutations at another BBS locus. In parallel, we identified five families harboring an SNV in NPHP1 resulting in a conserved missense change, c.14G>T (p.Arg5Leu), that is enriched in our Hispanic pedigrees; in each case, affected individuals carried additional bona fide pathogenic alleles in another BBS gene. In vivo functional modeling in zebrafish embryos demonstrated that c.14G>T is a loss-of-function variant, and suppression of nphp1 in concert with each of the primary BBS loci found in our NPHP1-positive pedigrees exacerbated the severity of the phenotype. These results suggest that NPHP1 mutations are probably rare primary causes of BBS that contribute to the mutational burden of the disorder.
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