Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?

N Hilgert, RJH Smith, G Van Camp - Mutation Research/Reviews in …, 2009 - Elsevier
Hearing impairment is the most common sensory disorder, present in 1 of every 500
newborns. With 46 genes implicated in nonsyndromic hearing loss, it is also an extremely …

Emerging gene therapies for genetic hearing loss

H Ahmed, O Shubina-Oleinik, JR Holt - … of the Association for Research in …, 2017 - Springer
Gene therapy, or the treatment of human disease using genetic material, for inner ear
dysfunction is coming of age. Recent progress in developing gene therapy treatments for …

Copy number variants are a common cause of non-syndromic hearing loss

AE Shearer, DL Kolbe, H Azaiez, CM Sloan, KL Frees… - Genome medicine, 2014 - Springer
Abstract Background Copy number variants (CNVs) are a well-recognized cause of genetic
disease; however, methods for their identification are often gene-specific, excluded as …

[HTML][HTML] Autosomal recessive nonsyndromic deafness genes: a review

D Duman, M Tekin - Frontiers in bioscience: a journal and virtual …, 2012 - ncbi.nlm.nih.gov
More than 50 percent of prelingual hearing loss is genetic in origin, and of these up to 93
percent are monogenic autosomal recessive traits. Some forms of genetic deafness can be …

Genetics of hearing and deafness

S Angeli, X Lin, XZ Liu - The Anatomical Record: Advances in …, 2012 - Wiley Online Library
This article is a review of the genes and genetic disorders that affect hearing in humans and
a few selected mouse models of deafness. Genetics is playing an increasingly critical role in …

Genomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51

T Walsh, SB Pierce, DR Lenz, Z Brownstein… - The American Journal of …, 2010 - cell.com
Age-related hearing loss is due to death over time, primarily by apoptosis, of hair cells in the
inner ear. Studies of mutant genes responsible for inherited progressive hearing loss have …

Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations

N Mahdieh, B Rabbani, S Wiley, MT Akbari… - Journal of human …, 2010 - nature.com
Hearing loss (HL) is the most prevalent sensory defect affecting 1 in 500 neonates. Genetic
factors are involved in half of the cases. The extreme heterogeneity of HL makes it difficult to …

Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome

MR Tollefson, RA Gogal, AM Weaver, AM Schaefer… - Human Genetics, 2023 - Springer
Hearing loss is the leading sensory deficit, affecting~ 5% of the population. It exhibits
remarkable heterogeneity across 223 genes with 6328 pathogenic missense variants …

Advances and challenges in adeno-associated viral inner-ear gene therapy for sensorineural hearing loss

K Bankoti, C Generotti, T Hwa, L Wang… - … Therapy-Methods & …, 2021 - cell.com
There is growing attention and effort focused on treating the root cause of sensorineural
hearing loss rather than managing associated secondary characteristic features. With recent …

A Novel DFNA36 Mutation in TMC1 Orthologous to the Beethoven (Bth) Mouse Associated with Autosomal Dominant Hearing Loss in a Chinese Family

Y Zhao, D Wang, L Zong, F Zhao, L Guan, P Zhang… - PLoS …, 2014 - journals.plos.org
Mutations in the transmembrane channel-like gene 1 (TMC1) can cause both DFNA36 and
DFNB7/11 hearing loss. More than thirty DFNB7/11 mutations have been reported, but only …