ArticleGenetics in medicine : official journal of the American College of Medical Genetics2015
Identification of OSBPL2 as a novel candidate gene for progressive nonsyndromic hearing loss by whole-exome sequencing.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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32 citing papers in PubMed, 64 citations in OpenAlex.
- HSD17B7 is required for the function of sensory hair cells by regulating cholesterol synthesis.eLife · 2026Article
- OSBPL2 deficiency inhibits Rho/ROCK2/p-ERM signaling and impairs actin cytoskeletal regulation in auditory cells.Journal of biomedical research · 2025Article
- Next-Generation Sequencing of Chinese Children with Congenital Hearing Loss Reveals Rare and Novel Variants in Known and Candidate Genes.Biomedicines · 2024Article
- Article
- Collagen I-induced VCAN/ERK signaling and PARP1/ZEB1-mediated metastasis facilitate OSBPL2 defect to promote colorectal cancer progression.Cell death & disease · 2024Article
- The applications of CRISPR/Cas-mediated genome editing in genetic hearing loss.Cell & bioscience · 2023Review
- Impact of cholesterol homeostasis within cochlear cells on auditory development and hearing loss.Frontiers in cellular neuroscience · 2023Review
- Article
- Kiaa1024L/Minar2 is essential for hearing by regulating cholesterol distribution in hair bundles.eLife · 2022Article
- Searching for the Molecular Basis of Partial Deafness.International journal of molecular sciences · 2022Article
- Mutations in OSBPL2 cause hearing loss associated with primary cilia defects via sonic hedgehog signaling.JCI insight · 2022Article
- ORP2 couples LDL-cholesterol transport to FAK activation by endosomal cholesterol/PI(4,5)PThe EMBO journal · 2021Article
- Oxysterol-binding protein-like 2 contributes to the developmental progression of preadipocytes by binding to β-catenin.Cell death discovery · 2021Article
- The role of the Golgi apparatus in disease (Review).International journal of molecular medicine · 2021Review
- Small fish, big prospects: using zebrafish to unravel the mechanisms of hereditary hearing loss.Hearing research · 2020Article
- Gene therapy development in hearing research in China.Gene therapy · 2020Review
- OSBPL2 Is Required for the Binding of COPB1 to ATGL and the Regulation of Lipid Droplet Lipolysis.iScience · 2020Article
- Case report: Novel GJB2 variant c.113T>C associated with autosomal recessive non-syndromic hearing loss (ARNSHL) in a Han family.Medicine · 2019Article
- Deletion of OSBPL2 in auditory cells increases cholesterol biosynthesis and drives reactive oxygen species production by inhibiting AMPK activity.Cell death & disease · 2019Article
- A novel pathogenic variant in OSBPL2 linked to hereditary late-onset deafness in a Mongolian family.BMC medical genetics · 2019Article
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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
purposeVarious forms of hearing loss have genetic causes, but many of the responsible genes have not yet been identified. Here, we describe a large seven-generation Chinese family with autosomal dominant nonsyndromic hearing loss that has been excluded as being caused by known deafness gene mutations associated with autosomal dominant nonsyndromic hearing loss with the aim of identifying a novel causative gene involved in deafness.
methodsWhole-exome sequencing was conducted in three affected family members, and cosegregation analysis was performed on other members of the family.
resultsWhole-exome sequencing and subsequent segregation analysis identified a heterozygous frameshift mutation (c.153_154delCT, p.Gln53Argfs*100) in the oxysterol binding protein-like 2 (OSBPL2) gene in 25 affected family members. The deletion mutation is predicted to lead to premature truncation of the OSBPL2 protein. Modeling and structure-based analysis support the theory that this gene deletion is functionally deleterious. Our finding was further confirmed by the detection of another missense mutation, a c.583C>A transversion (p.Leu195Met) in exon 7 of OSBPL2, in an additional sporadic case of deafness.
conclusionBased on this study, OSBPL2 was identified as an excellent novel candidate gene for autosomal dominant nonsyndromic hearing loss; this study is the first to implicate OSBPL2 mutations in autosomal dominant nonsyndromic hearing loss.
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