Molecular and functional studies of 4 candidate loci in Pendred syndrome and nonsyndromic hearing loss

2012 ◽  
Vol 351 (2) ◽  
pp. 342-350 ◽  
Author(s):  
Valentina Cirello ◽  
Claudia Bazzini ◽  
Valeria Vezzoli ◽  
Marina Muzza ◽  
Simona Rodighiero ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Nonsyndromic Hearing Loss ◽  
Pendred Syndrome ◽  
Functional Studies ◽  
Candidate Loci

scholarly journals Novel Loss-of-Function Mutations in COCH Cause Autosomal Recessive Nonsyndromic Deafness

2020 ◽  
Author(s):  
Kevin T Booth ◽  
Amama Ghaffar ◽  
Muhammad Rashid ◽  
Luke T Hovey ◽  
Mureed Hussain ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Rna Splicing ◽  
Autosomal Recessive ◽  
Dominant Negative ◽  
Nonsyndromic Hearing Loss ◽  
Loss Of Function ◽  
Functional Studies ◽  
Pathogenic Variants ◽  
Exon Splicing ◽  
Coding Variants

AbstractCOCH is the most abundantly expressed gene in the cochlea. Unsurprisingly, mutations in COCH underly deafness in mice and humans. Two forms of deafness are linked to mutations in COCH, the well-established autosomal dominant nonsyndromic hearing loss, with or without vestibular dysfunction (DFNA9) via a gain-of-function/dominant-negative mechanism, and more recently autosomal recessive nonsyndromic hearing loss (DFNB110) via nonsense variants. Using a combination of targeted gene panels, exome sequencing and functional studies, we identified four novel pathogenic variants (two nonsense variants, one missense and one inframe deletion) in COCH as the cause of autosomal recessive hearing loss in a multi-ethnic cohort. To investigate whether the non-truncating variants exert their effect via a loss-of-function mechanism, we used mini-gene splicing assays. Our data showed both the missense and inframe deletion variants altered RNA-splicing by creating an exon splicing silencer and abolishing an exon splicing enhancer, respectively. Both variants create frameshifts and are predicted to result in a null allele. This study confirms the involvement of loss-of-function mutations in COCH in autosomal recessive nonsyndromic hearing loss, expands the mutational landscape of DFNB110 to include coding variants that alter RNA-splicing, and highlights the need to investigate the effect of coding variants on RNA-splicing.

scholarly journals Molecular screening of patients with nonsyndromic hearing loss from Nanjing city of China

2011 ◽  
Vol 25 (5) ◽  
pp. 309-318 ◽  
Author(s):  
Yajie Lu ◽  
Dachun Dai ◽  
Zhibin Chen ◽  
Xin Cao ◽  
Xingkuan Bu ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Nonsyndromic Hearing Loss ◽  
Molecular Screening ◽  
Nanjing City

Progressive Sensorineural Hearing Loss and a Widened Vestibular Aqueduct in Pendred Syndrome

1998 ◽  
Vol 124 (5) ◽  
pp. 501 ◽  
Author(s):  
Cor W. R. J. Cremers ◽  
Cuny Bolder ◽  
Ronald J. C. Admiraal ◽  
Lorraine A. Everett ◽  
Frank B. M. Joosten ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Sensorineural Hearing ◽  
Pendred Syndrome ◽  
Vestibular Aqueduct

Genetics Landscape of Nonsyndromic Hearing Loss in Indian Populations

2021 ◽  
Author(s):  
Manisha Ray ◽  
Saurav Sarkar ◽  
Mukund Namdev Sable
Keyword(s):  
Hearing Loss ◽  
Gap Junction ◽  
Genetic Heterogeneity ◽  
Target Gene ◽  
Indian Population ◽  
Nonsyndromic Hearing Loss ◽  
Indian Populations ◽  
Chronic Disorder

AbstractCongenital nonsyndromic hearing loss (NSHL) has been considered as one of the most prevalent chronic disorder in children. It affects the physical and mental conditions of a large children population worldwide. Because of the genetic heterogeneity, the identification of target gene is very challenging. However, gap junction β-2 (GJB2) is taken as the key gene for hearing loss, as its involvement has been reported frequently in NSHL cases. This study aimed to identify the association of GJB2 mutants in different Indian populations based on published studies in Indian population. This will provide clear genetic fundamental of NSHL in Indian biogeography, which would be helpful in the diagnosis process.

Confirmation of PDZD7 as a Nonsyndromic Hearing Loss Gene

2016 ◽  
Vol 37 (4) ◽  
pp. e238-e246 ◽  
Author(s):  
Barbara Vona ◽  
Stanislav Lechno ◽  
Michaela A. H. Hofrichter ◽  
Susanne Hopf ◽  
Anne K. Läig ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Nonsyndromic Hearing Loss
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