scholarly journals Mutations in PLS1 , encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss

2019 ◽  
Vol 40 (12) ◽  
pp. 2286-2295 ◽  
Author(s):  
Anna Morgan ◽  
Daniel C. Koboldt ◽  
Elizabeth S. Barrie ◽  
Erin R. Crist ◽  
Gema García García ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Autosomal Dominant ◽  
Nonsyndromic Hearing Loss

scholarly journals A Gene for Fluctuating, Progressive Autosomal Dominant Nonsyndromic Hearing Loss, DFNA16, Maps to Chromosome 2q23-24.3

1999 ◽  
Vol 65 (1) ◽  
pp. 141-150 ◽  
Author(s):  
Kunihiro Fukushima ◽  
Norio Kasai ◽  
Yasuyoshi Ueki ◽  
Kazunori Nishizaki ◽  
Kennichi Sugata ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Autosomal Dominant ◽  
Nonsyndromic Hearing Loss

The p.R206C Mutation in MYO7A Leads to Autosomal Dominant Nonsyndromic Hearing Loss

ORL ◽  
2020 ◽  
Vol 82 (4) ◽  
pp. 181-187
Author(s):  
Jiawen Lu ◽  
Penghui Chen ◽  
Tuanjie Chen ◽  
Lin Li ◽  
Xiaoli Fu ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Autosomal Dominant ◽  
Nonsyndromic Hearing Loss

COCH-related autosomal dominant nonsyndromic hearing loss: a phenotype–genotype study

2021 ◽  
Author(s):  
Kyung Seok Oh ◽  
Daniel Walls ◽  
Sun Young Joo ◽  
Jung Ah Kim ◽  
Jee Eun Yoo ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Autosomal Dominant ◽  
Nonsyndromic Hearing Loss

scholarly journals A Novel Nonsense Mutation ofPOU4F3Gene Causes Autosomal Dominant Hearing Loss

2016 ◽  
Vol 2016 ◽  
pp. 1-10 ◽  
Author(s):  
Chi Zhang ◽  
Mingming Wang ◽  
Yun Xiao ◽  
Fengguo Zhang ◽  
Yicui Zhou ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Nonsense Mutation ◽  
Autosomal Dominant ◽  
Late Onset ◽  
Stop Codon ◽  
Novel Mutation ◽  
Genetic Diagnosis ◽  
Chinese Family ◽  
Nonsyndromic Hearing Loss ◽  
Truncated Protein

POU4F3gene encodes a transcription factor which plays an essential role in the maturation and maintenance of hair cells in cochlea and vestibular system. Several mutations ofPOU4F3have been reported to cause autosomal dominant nonsyndromic hearing loss in recent years. In this study, we describe a pathogenic nonsense mutation located inPOU4F3in a four-generation Chinese family. Target region capture sequencing was performed to search for the candidate mutations from 81 genes related to nonsyndromic hearing loss in this family. A novel nonsense mutation ofPOU4F3, c.337C>T (p.Gln113⁎), was identified in a Chinese family characterized by late-onset progressive nonsyndromic hearing loss. The novel mutation cosegregated with hearing loss in this family and was absent in 200 ethnicity-matched controls. The mutation led to a stop codon and thus a truncated protein with no functional domains remained. Transient transfection and immunofluorescence assay revealed that the subcellular localization of the truncated protein differed markedly from normal protein, which could be the underlying reason for complete loss of its normal function. Here, we report the first nonsense mutation ofPOU4F3associated with progressive hearing loss and explored the possible underlying mechanism. Routine examination ofPOU4F3is necessary for the genetic diagnosis of hereditary hearing loss in the future.

scholarly journals A Contemporary Review of AudioGene audioprofiling: A machine-based candidate gene prediction tool for autosomal dominant nonsyndromic hearing loss

2009 ◽  
Vol 119 (11) ◽  
pp. 2211-2215 ◽  
Author(s):  
Michael S. Hildebrand ◽  
Adam P. DeLuca ◽  
Kyle R. Taylor ◽  
David P. Hoskinson ◽  
In Ae Hur ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Candidate Gene ◽  
Autosomal Dominant ◽  
Gene Prediction ◽  
Prediction Tool ◽  
Nonsyndromic Hearing Loss

scholarly journals Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss

2011 ◽  
Vol 155 (5) ◽  
pp. 1202-1211 ◽  
Author(s):  
Niloofar Bazazzadegan ◽  
Abraham M. Sheffield ◽  
Masoomeh Sobhani ◽  
Kimia Kahrizi ◽  
Nicole C. Meyer ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Autosomal Dominant ◽  
Novel Mutation ◽  
Nonsyndromic Hearing Loss

scholarly journals A novel missense variant in the DIAPH1 gene in a Korean family with autosomal dominant nonsyndromic hearing loss

2016 ◽  
Vol 91 (5) ◽  
pp. 289-292 ◽  
Author(s):  
Tae-Hun Kang ◽  
Jeong-In Baek ◽  
Borum Sagong ◽  
Hong-Joon Park ◽  
Chan Ik Park ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Autosomal Dominant ◽  
Missense Variant ◽  
Nonsyndromic Hearing Loss ◽  
Korean Family ◽  
I Gene
Sign in / Sign up

Export Citation Format

Share Document