scholarly journals POSTLINGUAL SENSORINEURAL HEARING LOSS DUE TO A VERY RARE COCH PATHOGENIC VARIANT

2018 ◽  
Vol 8 (1) ◽  
pp. 31-37
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Pathogenic Variant ◽  
Sensorineural Hearing

Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings

Neurogenetics ◽  
2019 ◽  
Vol 20 (3) ◽  
pp. 165-172 ◽  
Author(s):  
Marcello Scala ◽  
Giorgia Brigati ◽  
Chiara Fiorillo ◽  
Claudia Nesti ◽  
Anna Rubegni ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Pathogenic Variant ◽  
Sensorineural Hearing

scholarly journals Prelingual Sensorineural Hearing Loss Caused by a Novel GJB2 Dominant Mutation in a Chinese Family

2020 ◽  
Vol 2020 ◽  
pp. 1-6
Author(s):  
Shasha Huang ◽  
Xue Gao ◽  
Yufeng Wang ◽  
Dongyang Kang ◽  
Xin Zhang ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Sanger Sequencing ◽  
Pathogenic Variant ◽  
Sensorineural Hearing ◽  
Chinese Family ◽  
Dominant Mutation ◽  
Common Cause ◽  
Pathogenic Variation ◽  
Complete Physical Examination

Background. GJB2 mutation is the most common cause of genetic deafness. Many pathogenic variations have already been identified, and thus, fewer and fewer novel pathogenic variations remain to be identified. Here, we describe a novel pathogenic variation associated with dominant hereditary deafness in a Chinese family. Methods. In this study, we examined four generations of a Chinese family (M127) with hearing loss. Temporal CT scan, complete physical examination (including skin and hair), and audiological tests were performed. Targeted next-generation and Sanger sequencing were used to identify pathogenic mutations in affected individuals. Results. All patients exhibited prelingual nonsyndromic sensorineural hearing loss, with severity ranging from moderate to severe. A novel dominant pathogenic variant c.205T > C (p.Phe69Leu) was identified in all patients in this family. Conclusions. c.205T > C (p.Phe69Leu) was identified as a novel dominant pathogenic variant of GJB2 associated with prelingual nonsyndromic sensorineural hearing loss.

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