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Page 1
Genetic etiology of non-syndromic hearing loss in Europe.
Del Castillo I, Morín M, Domínguez-Ruiz M, Moreno-Pelayo MA. Del Castillo I, et al. Hum Genet. 2022 Apr;141(3-4):683-696. doi: 10.1007/s00439-021-02425-6. Epub 2022 Jan 19. Hum Genet. 2022. PMID: 35044523 Review.
In Europe, the most common form of autosomal recessive NSHI is DFNB1, which accounts for 11-57% of the cases. Mutations in STRC account for 16% of the recessive cases, and only a few more (MYO15A, MYO7A, LOXHD1, USH2A, TMPRSS3, CDH23, TMC1, OTOF, OTOA, SLC26A4, ADGRV1 and …
In Europe, the most common form of autosomal recessive NSHI is DFNB1, which accounts for 11-57% of the cases. Mutations in STRC accou …
DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System.
Sommen M, Schrauwen I, Vandeweyer G, Boeckx N, Corneveaux JJ, van den Ende J, Boudewyns A, De Leenheer E, Janssens S, Claes K, Verstreken M, Strenzke N, Predöhl F, Wuyts W, Mortier G, Bitner-Glindzicz M, Moser T, Coucke P, Huentelman MJ, Van Camp G. Sommen M, et al. Hum Mutat. 2016 Aug;37(8):812-9. doi: 10.1002/humu.22999. Epub 2016 May 6. Hum Mutat. 2016. PMID: 27068579
CNV analysis resulted in the identification of causative variants in two patients in OTOA and STRC. One of the major challenges for diagnostic gene panels is assigning pathogenicity for variants. ...
CNV analysis resulted in the identification of causative variants in two patients in OTOA and STRC. One of the major challenges for d …
Prenatal cytogenomic identification and molecular refinement of compound heterozygous STRC deletion breakpoints.
Shi L, Bai Y, Kharbutli Y, Oza AM, Amr SS, Edelmann L, Mehta L, Scott SA. Shi L, et al. Mol Genet Genomic Med. 2019 Aug;7(8):e806. doi: 10.1002/mgg3.806. Epub 2019 Jun 19. Mol Genet Genomic Med. 2019. PMID: 31218851 Free PMC article.
However, given the low resolution of CMA at this homologous locus, it was unclear if the neighboring STRC hearing loss gene was also affected. Therefore, we developed a novel allele-specific PCR strategy, which narrowed the proximal breakpoint of the maternally inherited d …
However, given the low resolution of CMA at this homologous locus, it was unclear if the neighboring STRC hearing loss gene was also …
Evaluation of copy number variants for genetic hearing loss: a review of current approaches and recent findings.
Abbasi W, French CE, Rockowitz S, Kenna MA, Eliot Shearer A. Abbasi W, et al. Hum Genet. 2022 Apr;141(3-4):387-400. doi: 10.1007/s00439-021-02365-1. Epub 2021 Nov 22. Hum Genet. 2022. PMID: 34811589 Review.
While large deletions involving the gene STRC are the most common pathogenic CNVs, a significant proportion of known hearing loss genes also contain pathogenic CNVs. ...
While large deletions involving the gene STRC are the most common pathogenic CNVs, a significant proportion of known hearing loss gen …
Negative Molecular Diagnostics in Non-Syndromic Hearing Loss: What Next?
Clabout T, Maes L, Acke F, Wuyts W, Van Schil K, Coucke P, Janssens S, De Leenheer E. Clabout T, et al. Genes (Basel). 2022 Dec 29;14(1):105. doi: 10.3390/genes14010105. Genes (Basel). 2022. PMID: 36672845 Free PMC article.
Additional genetic testing revealed pathogenic copy number variants in the STRC gene in two families. In summary, regular re-evaluation of hearing loss patients with presumably genetic etiology after negative molecular diagnostics is recommended, as we might miss newly dis …
Additional genetic testing revealed pathogenic copy number variants in the STRC gene in two families. In summary, regular re-evaluati …
Hair-Bundle Links: Genetics as the Gateway to Function.
Richardson GP, Petit C. Richardson GP, et al. Cold Spring Harb Perspect Med. 2019 Dec 2;9(12):a033142. doi: 10.1101/cshperspect.a033142. Cold Spring Harb Perspect Med. 2019. PMID: 30617060 Free PMC article. Review.
We describe the structure of these links and review evidence showing CDH23 and PCDH15 are components of the tip, kinocilial, and transient-lateral links, that stereocilin (STRC) and protein tyrosine phosphatase (PTPRQ) are associated with top and shaft connectors, r …
We describe the structure of these links and review evidence showing CDH23 and PCDH15 are components of the tip, kinocilial, and transient-l …
Mutation spectrum of hearing loss patients in Northwest China: Identification of 20 novel variants.
Ma P, Zhou B, Kang Q, Chen X, Tian X, Hui L, Hao S, Wu H, Zhang C. Ma P, et al. Mol Genet Genomic Med. 2024 Jun;12(6):e2434. doi: 10.1002/mgg3.2434. Mol Genet Genomic Med. 2024. PMID: 38860500 Free PMC article.
Meanwhile, OSBPL2 (OMIM # 606731), RRM2B (OMIM # 604712), OTOG (OMIM # 604487), STRC (OMIM # 606440), PCDH15 (OMIM # 605514), LOXHD1 (OMIM # 613072), CDH23 (OMIM # 605516), TMC1 (OMIM # 606706), CHD7 (OMIM # 608892), DIAPH3 (OMIM # 614567), TBC1D24 (OMIM # 613577), TIMM8A …
Meanwhile, OSBPL2 (OMIM # 606731), RRM2B (OMIM # 604712), OTOG (OMIM # 604487), STRC (OMIM # 606440), PCDH15 (OMIM # 605514), LOXHD1 …
The Next Generation of Population-Based DFNB16 Carrier Screening and Diagnosis: STRC Copy-Number Variant Analysis from Genome Sequencing Data.
Xiang J, Peng J, Sun X, Lin Z, Li D, Ye H, Wang S, Bai Y, Wang X, Du P, Gao Y, Sun J, Pan S, Peng Z. Xiang J, et al. Clin Chem. 2023 Jul 5;69(7):763-770. doi: 10.1093/clinchem/hvad046. Clin Chem. 2023. PMID: 37207672
BACKGROUND: Deafness, autosomal recessive 16 (DFNB16) is caused by compound heterozygous or homozygous variants in STRC and is the second most common form of genetic hearing loss. ...METHODS: We developed a method that accurately identifies the copy number of STR …
BACKGROUND: Deafness, autosomal recessive 16 (DFNB16) is caused by compound heterozygous or homozygous variants in STRC and is …
Serum Levels of Stereocilin as a Hearing Biomarker.
Malesky C, Daniel D, Skoe E, Parham K. Malesky C, et al. Otolaryngol Head Neck Surg. 2024 Dec;171(6):1934-1937. doi: 10.1002/ohn.915. Epub 2024 Jul 21. Otolaryngol Head Neck Surg. 2024. PMID: 39033359
Noise-induced hearing loss (NIHL) often presents with an insidious onset, resulting from the cumulative effect of chronic, high-level noise exposure regardless of etiology. Stereocilin (STRC) is a protein that supports stereocilia attachment and cochlear hair cell f …
Noise-induced hearing loss (NIHL) often presents with an insidious onset, resulting from the cumulative effect of chronic, high-level noise …
69 results