Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss

Booth, Kevin T.; Ghaffar, Amama; Rashid, Maryam; Hovey, Luke T; Hussain, Mureed; Frees, Kathy; Renkes, Erika M; Nishimura, Carla; Shahzad, Mohsin; Smith, Richard J.H.; Ahmed, Zubair M.; Azaiez, Héla; Riazuddin, Saima

doi:10.1007/s00439-020-02197-5

Cited by 16 publications

(13 citation statements)

References 45 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…To date, 31 different pathogenic variants have been described in COCH worldwide, all associated with late-onset SNHL with asymmetric interaural audiological thresholds and variability as well as variable degree of vestibular impairment, depending on their molecular location. All show autosomal dominant heredity, except for several autosomal recessive deterioration-of-function mutations that cause singular congenital hearing loss without apparent vestibular loss ( Bae et al 2014 ; JanssensdeVarebeke et al 2018 ; Downie et al 2020 ; Booth et al 2020 ).…”

Section: Introductionmentioning

confidence: 99%

Genotype-phenotype Correlation Study in a Large Series of Patients Carrying the p.Pro51Ser (p.P51S) Variant in COCH (DFNA9): Part I—A Cross-sectional Study of Hearing Function in 111 Carriers

et al. 2021

View full text Add to dashboard Cite

show abstract

Section: Introductionmentioning

confidence: 99%

Genotype-phenotype Correlation Study in a Large Series of Patients Carrying the p.Pro51Ser (p.P51S) Variant in COCH (DFNA9): Part I—A Cross-sectional Study of Hearing Function in 111 Carriers

et al. 2021

View full text Add to dashboard Cite

show abstract

“…No restrictions were placed on the inclusion of articles based on bias. Articles describing homozygous loss-of-function variants in COCH that lead to DFNB110, [ 7 , 66 , 67 , 68 ] were excluded from further analysis; additional study details can be found in Table S4 . We also decided to exclude the c.266C > A; p.(Pro89His) COCH variant, previously reported by Dodson et al, (2012), from this study (see Table S4 ).…”

Section: Resultsmentioning

confidence: 99%

Genotype-Phenotype Correlations of Pathogenic COCH Variants in DFNA9: A HuGE Systematic Review and Audiometric Meta-Analysis

et al. 2022

View full text Add to dashboard Cite

Pathogenic missense variants in COCH are associated with DFNA9, an autosomal dominantly inherited type of progressive sensorineural hearing loss with or without vestibular dysfunction. This study is a comprehensive overview of genotype-phenotype correlations using the PRISMA and HuGENet guidelines. Study characteristics, risk of bias, genotyping and data on the self-reported age of onset, symptoms of vestibular dysfunction, normative test results for vestibular function, and results of audiovestibular examinations were extracted for each underlying pathogenic COCH variant. The literature search yielded 48 studies describing the audiovestibular phenotypes of 27 DFNA9-associated variants in COCH. Subsequently, meta-analysis of audiometric data was performed by constructing age-related typical audiograms and by performing non-linear regression analyses on the age of onset and progression of hearing loss. Significant differences were found between the calculated ages of onset and progression of the audiovestibular phenotypes of subjects with pathogenic variants affecting either the LCCL domain of cochlin or the vWFA2 and Ivd1 domains. We conclude that the audiovestibular phenotypes associated with DFNA9 are highly variable. Variants affecting the LCCL domain of cochlin generally lead to more progression of hearing loss when compared to variants affecting the other domains. This review serves as a reference for prospective natural history studies in anticipation of mutation-specific therapeutic interventions.

show abstract

“…reported that EXO1 is a potential prognostic marker and correlates with tumor infiltrating immune cells in LUAD ( 32 ). COCH is a highly conserved gene and the loss of function of COCH mutations leads to autosomal recessive non-syndromic hearing loss ( 33 ). Also, COCH is regulated at the time of embryo implantation by leukemic inhibitory factor in the uterus ( 34 ).…”

Section: Discussionmentioning

confidence: 99%

A TP53 Related Immune Prognostic Model for the Prediction of Clinical Outcomes and Therapeutic Responses in Lung Adenocarcinoma

Zhang

Min²,

Yang³

et al. 2022

Front. Immunol.

View full text Add to dashboard Cite

TP53 is the most frequently mutated gene in lung adenocarcinoma (LUAD). The tumor immune microenvironment (TIM) is considered a vital factor that influences tumor progression and survival rate. The influence of TP53 mutation on TIM in LUAD has not been fully studied. Here we systematically investigated the relationship and potential mechanisms between TP53 mutation status and immune response in LUAD. We constructed an immune prognostic model (IPM) using immune associated genes, which were expressed differentially between the TP53 mutant and wild type LUAD patients. We discovered that TP53 mutations were significantly associated with 5 immune related biological processes. Thirty-six immune genes were expressed differentially between TP53 mutant and wild type LUAD patients. An IPM was constructed using 3 immune genes to differentiate the prognostic survival in LUAD. The high-risk LUAD group displayed significantly higher proportions of dendritic cell resting, T cell CD4 memory resting and mast cell resting, and significantly low proportions of dendritic cell activated, T cell CD4 memory activated, and mast cell activated. Moreover, IPM was found to be an independent clinical feature and can be used to predict immunotherapy responses. In summary, we constructed and validated an IPM using 3 immune related genes, which provides a better understanding of the mechanism from an immunological perspectives.

show abstract

Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss

Cited by 16 publications

References 45 publications

Genotype-phenotype Correlation Study in a Large Series of Patients Carrying the p.Pro51Ser (p.P51S) Variant in COCH (DFNA9): Part I—A Cross-sectional Study of Hearing Function in 111 Carriers

Genotype-phenotype Correlation Study in a Large Series of Patients Carrying the p.Pro51Ser (p.P51S) Variant in COCH (DFNA9): Part I—A Cross-sectional Study of Hearing Function in 111 Carriers

Genotype-Phenotype Correlations of Pathogenic COCH Variants in DFNA9: A HuGE Systematic Review and Audiometric Meta-Analysis

A TP53 Related Immune Prognostic Model for the Prediction of Clinical Outcomes and Therapeutic Responses in Lung Adenocarcinoma

Contact Info

Product

Resources

About