Genetic etiology of non-syndromic hearing loss in Europe

I Del Castillo, M Morín, M Domínguez-Ruiz… - Human Genetics, 2022 - Springer
Hearing impairment not etiologically associated with clinical signs in other organs (non-
syndromic) is genetically heterogeneous, so that over 120 genes are currently known to be …

Comprehensive analysis of deafness genes in families with autosomal recessive nonsyndromic hearing loss

T Atik, H Onay, A Aykut, G Bademci, T Kirazli, M Tekin… - PloS one, 2015 - journals.plos.org
Comprehensive genetic testing has the potential to become the standard of care for
individuals with hearing loss. In this study, we investigated the genetic etiology of autosomal …

Spectrum and frequencies of non GJB2 gene mutations in Czech patients with early non‐syndromic hearing loss detected by gene panel NGS and whole‐exome …

D Safka Brozkova, S Poisson Marková… - Clinical …, 2020 - Wiley Online Library
Non‐syndromic autosomal recessive hearing loss is an extremely heterogeneous disease
caused by mutations in more than 80 genes. We examined Czech patients with …

[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 …

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 …

Non-syndromic hearing loss: clinical and diagnostic challenges

B Vona, J Doll, MAH Hofrichter, T Haaf - Medizinische genetik, 2020 - degruyter.com
Hereditary hearing loss is clinically and genetically heterogeneous. There are presently over
120 genes that have been associated with non-syndromic hearing loss and many more that …

Lights and shadows in the genetics of syndromic and non-syndromic hearing loss in the Italian population

A Morgan, S Lenarduzzi, B Spedicati, E Cattaruzzi… - Genes, 2020 - mdpi.com
Hearing loss (HL), both syndromic (SHL) and non-syndromic (NSHL), is the most common
sensory disorder, affecting~ 460 million people worldwide. More than 50% of the …

Genetic epidemiology and clinical features of hereditary hearing impairment in the Taiwanese population

CC Wu, CY Tsai, YH Lin, PY Chen, PH Lin, YF Cheng… - Genes, 2019 - mdpi.com
Hereditary hearing impairment (HHI) is a common but heterogeneous clinical entity caused
by mutations in a plethora of deafness genes. Research over the past few decades has …

Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss

O Diaz-Horta, D Duman, J Foster, A Sırmacı… - PloS one, 2012 - journals.plos.org
Identification of the pathogenic mutations underlying autosomal recessive nonsyndromic
hearing loss (ARNSHL) is difficult, since causative mutations in 39 different genes have so …

Whole‐exome sequencing identifies rare pathogenic and candidate variants in sporadic Chinese Han deaf patients

S Zou, X Mei, W Yang, R Zhu, T Yang, H Hu - Clinical genetics, 2020 - Wiley Online Library
Genetic causes of hearing loss are highly heterogeneous and often ethnically specific. In
recent years, a variety of next‐generation sequencing (NGS) panels have been developed …