ArticleMolecular genetics & genomic medicine2014
Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet-Biedl family.
Article in Molecular genetics & genomic medicine, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 16 citations in OpenAlex.
- Intrafamilial variability of phenotype in CACNA2D4-associated retinal dysfunction: more or less.Documenta ophthalmologica. Advances in ophthalmology · 2025Article
- Comprehensive clinical and genetic characterization of Bardet-Biedl Syndrome: insights from the largest Turkish cohort.European journal of pediatrics · 2025Article
- Bardet-Biedl syndrome caused by compound heterozygosity in BBS12 gene: a case report of one family with three affected members.Frontiers in pediatrics · 2023Article
- Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome.NPJ genomic medicine · 2022Article
- Identification of a Novel Homozygous Missense (c.443A>T:p.N148I) Mutation inBioMed research international · 2021Article
- Characteristics of genotype and phenotype in Chinese patients with Bardet-Biedl syndrome.International ophthalmology · 2020Article
- Bardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease management.Indian journal of ophthalmology · 2016Review
- Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree.BMC genetics · 2014Article
- Exome sequencing reveals novel and recurrent mutations with clinical significance in inherited retinal dystrophies.PloS one · 2014Article
- Bardet-Biedl Syndrome in Four Siblings: Clinical and Genetic Insights From a Rare Familial Cluster.AACE endocrinology and diabetesArticle
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Authors and funding
11 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Bardet-Biedl syndrome (BBS) is a model ciliopathy characterized by a wide range of clinical variability. The heterogeneity of this condition is reflected in the number of underlying gene defects and the epistatic interactions between the proteins encoded. BBS is generally inherited in an autosomal recessive trait. However, in some families, mutations across different loci interact to modulate the expressivity of the phenotype. In order to investigate the magnitude of epistasis in one BBS family with remarkable intrafamilial phenotypic variability, we designed an exome sequencing-based approach using SOLID 5500xl platform. This strategy allowed the reliable detection of the primary causal mutations in our family consisting of two novel compound heterozygous mutations in McKusick-Kaufman syndrome (MKKS) gene (p.D90G and p.V396F). Additionally, exome sequencing enabled the detection of one novel heterozygous NPHP4 variant which is predicted to activate a cryptic acceptor splice site and is only present in the most severely affected patient. Here, we provide an exome sequencing analysis of a BBS family and show the potential utility of this tool, in combination with network analysis, to detect disease-causing mutations and second-site modifiers. Our data demonstrate how next-generation sequencing (NGS) can facilitate the dissection of epistatic phenomena, and shed light on the genetic basis of phenotypic variability.
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