ArticleAmerican journal of human genetics2010
A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss.
Article in American journal of human genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 72 citations in OpenAlex.
- Clinical presentation and genotype-phenotype correlation of a novel pure duplication of 6p25.2-p22.3: a case report and literature review.Molecular cytogenetics · 2026Article
- The roles of serine protease inhibitors in dermatoses.Frontiers in genetics · 2025Review
- A Consolidated Understanding of the Contribution of Redox Dysregulation in the Development of Hearing Impairment.Antioxidants (Basel, Switzerland) · 2024Review
- Novel maternal duplication of 6p22.3-p25.3 with subtelomeric 6p25.3 deletion: new clinical findings and genotype-phenotype correlations.Molecular cytogenetics · 2023Article
- Analysis of genetic dominance in the UK Biobank.Science (New York, N.Y.) · 2023Article
- ARNSHL gene identification: past, present and future.Molecular genetics and genomics : MGG · 2022Review
- Copy Number Variation Analysis of 5p Deletion Provides Accurate Prenatal Diagnosis and Reveals Candidate Pathogenic Genes.Frontiers in medicine · 2022Article
- Identification of Hearing Loss-Associated Variants ofBioMed research international · 2021Article
- Small fish, big prospects: using zebrafish to unravel the mechanisms of hereditary hearing loss.Hearing research · 2020Article
- Practical aspects of inner ear gene delivery for research and clinical applications.Hearing research · 2020Review
- Genetic Hearing Loss and Gene Therapy.Genomics & informatics · 2018Article
- Amniotic fluid transcriptomics reflects novel disease mechanisms in fetuses with myelomeningocele.American journal of obstetrics and gynecology · 2017Article
- Global Analysis of Protein Expression of Inner Ear Hair Cells.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2017Article
- Activation of TRAIL-DR5 pathway promotes sensorineural degeneration in the inner ear.Aging cell · 2016Article
- EPS8L2 is a new causal gene for childhood onset autosomal recessive progressive hearing loss.Orphanet journal of rare diseases · 2015Article
- The aggregation-prone intracellular serpin SRP-2 fails to transit the ER in Caenorhabditis elegans.Genetics · 2015Article
- Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5.European journal of human genetics : EJHG · 2015Article
- The c.42_52del11 mutation in TPRN and progressive hearing loss in a family from Pakistan.Biochemical genetics · 2013Article
- Using population admixture to help complete maps of the human genome.Nature genetics · 2013Article
- Array-CGH characterization and genotype-phenotype analysis in a patient with a ring chromosome 6.BMC medical genomics · 2013Article
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Authors and funding
25 authors at 8 institutions in 4 countries.
Funding
Abstract
More than 270 million people worldwide have hearing loss that affects normal communication. Although astonishing progress has been made in the identification of more than 50 genes for deafness during the past decade, the majority of deafness genes are yet to be identified. In this study, we mapped a previously unknown autosomal-recessive nonsyndromic sensorineural hearing loss locus (DFNB91) to chromosome 6p25 in a consanguineous Turkish family. The degree of hearing loss was moderate to severe in affected individuals. We subsequently identified a nonsense mutation (p.E245X) in SERPINB6, which is located within the linkage interval for DFNB91 and encodes for an intracellular protease inhibitor. The p.E245X mutation cosegregated in the family as a completely penetrant autosomal-recessive trait and was absent in 300 Turkish controls. The mRNA expression of SERPINB6 was reduced and production of protein was absent in the peripheral leukocytes of homozygotes, suggesting that the hearing loss is due to loss of function of SERPINB6. We also demonstrated that SERPINB6 was expressed primarily in the inner ear hair cells. We propose that SERPINB6 plays an important role in the inner ear in the protection against leakage of lysosomal content during stress and that loss of this protection results in cell death and sensorineural hearing loss.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.