OR06-6 IRS2-deficient mice show sensorineural hearing loss that is delayed by concomitant PTP1B loss of function

2012 ◽  
Vol 22 ◽  
pp. S17 ◽  
Author(s):  
I. Varela-Nieto ◽  
S. Murillo-Cuesta ◽  
L. Rodriguez-de la Rosa ◽  
A. Gonzalez-Rodriguez ◽  
A.M. Valverde
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Sensorineural Hearing ◽  
Loss Of Function ◽  
Deficient Mice

scholarly journals Loss-of-function mutations in Carboxypeptidase D cause a new syndrome with lymphedema and sensorineural hearing loss

2017 ◽  
Vol 145 ◽  
pp. S32
Author(s):  
Simone Laupheimer ◽  
Emmanuelle Szenker ◽  
Umut Altunoglu ◽  
Hulya Kayserili ◽  
Bruno Reversade
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Sensorineural Hearing ◽  
Loss Of Function ◽  
Carboxypeptidase D

scholarly journals Novel Loss-of-Function Variants in CDC14A are Associated with Recessive Sensorineural Hearing Loss in Iranian and Pakistani Patients

2020 ◽  
Vol 21 (1) ◽  
pp. 311 ◽  
Author(s):  
Julia Doll ◽  
Susanne Kolb ◽  
Linda Schnapp ◽  
Aboulfazl Rad ◽  
Franz Rüschendorf ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Hearing Impairment ◽  
Splice Site ◽  
Donor Site ◽  
Sensorineural Hearing ◽  
Splice Donor Site ◽  
Loss Of Function ◽  
Altered Expression ◽  
Initial Symptoms

CDC14A encodes the Cell Division Cycle 14A protein and has been associated with autosomal recessive non-syndromic hearing loss (DFNB32), as well as hearing impairment and infertile male syndrome (HIIMS) since 2016. To date, only nine variants have been associated in patients whose initial symptoms included moderate-to-profound hearing impairment. Exome analysis of Iranian and Pakistani probands who both showed bilateral, sensorineural hearing loss revealed a novel splice site variant (c.1421+2T>C, p.?) that disrupts the splice donor site and a novel frameshift variant (c.1041dup, p.Ser348Glnfs*2) in the gene CDC14A, respectively. To evaluate the pathogenicity of both loss-of-function variants, we analyzed the effects of both variants on the RNA-level. The splice variant was characterized using a minigene assay. Altered expression levels due to the c.1041dup variant were assessed using RT-qPCR. In summary, cDNA analysis confirmed that the c.1421+2T>C variant activates a cryptic splice site, resulting in a truncated transcript (c.1414_1421del, p.Val472Leufs*20) and the c.1041dup variant results in a defective transcript that is likely degraded by nonsense-mediated mRNA decay. The present study functionally characterizes two variants and provides further confirmatory evidence that CDC14A is associated with a rare form of hereditary hearing loss.

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