Nonsyndromic Deafness

Hearing loss that is not associated with other signs and symptoms. Most cases are due to damage to structures of the INNER EAR. More than half of congenital cases are due to genetic factors; mutations in multiple genes have been identified, including POU3F4 (OMIM: 304400), MTRNR1 (OMIM: 561000), and MT-TS1 (OMIM: 590080).

Also Known As:

Networked: 336 relevant articles (1 outcomes, 37 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Cystic Fibrosis (Mucoviscidosis)
2.	alpha-Thalassemia
3.	Familial Mediterranean Fever (Periodic Disease)
4.	Glucosephosphate Dehydrogenase Deficiency
5.	Deafness (Deaf Mutism)

Experts

1.	Guan, Min-Xin: 25 articles (01/2017 - 01/2004)
2.	Smith, Richard J H: 16 articles (05/2020 - 05/2002)
3.	Friedman, Thomas B: 13 articles (04/2022 - 06/2004)
4.	Dai, Pu: 12 articles (01/2018 - 10/2006)
5.	Han, Dongyi: 12 articles (03/2016 - 01/2004)
6.	Zheng, Jing: 11 articles (01/2017 - 01/2010)
7.	Zhu, Yi: 11 articles (01/2017 - 10/2007)
8.	Ahmed, Zubair M: 10 articles (04/2016 - 04/2005)
9.	Riazuddin, Saima: 10 articles (04/2016 - 12/2006)
10.	Belyantseva, Inna A: 9 articles (04/2022 - 04/2005)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Nonsyndromic Deafness:

1.	Hemoglobins (Hemoglobin)IBA 04/23/2018 - "The most frequent positive results in the global panel were (in descending order): abnormal hemoglobin electrophoresis, familial Mediterranean fever, cystic fibrosis, fragile X, glucose-6-phosphate dehydrogenase deficiency, alpha-thalassemia, and nonsyndromic hearing loss. "
2.	Mitochondrial DNA (mtDNA)IBA 07/01/2016 - "Previous studies have linked GJB2 gene and mitochondrial DNA (mtDNA) mutations to nonsyndromic hearing impairment (NSHI), but no study in China has yet investigated these mutations across all age groups. " 06/01/2015 - "This study aimed to investigate the mutations of GJB2, mitochondrial DNA 12S rRNA1555A>G, and SLC26A4 genes in Han Chinese, Hui people, and Tibetan ethnicities in patients with nonsyndromic hearing loss (NSHL) in northwest China. " 08/01/2013 - "This study demonstrated high prevalence of GJB2, SLC26A4, and mtDNA A1555G mutations in Chinese patients with nonsyndromic hearing loss and discovered eight novel mutations in SLC26A4. " 08/01/2010 - "To study mtDNA, GJB2, GJB3 and determine gene mutation situs and frequency in Uighur and Han people with hereditary nonsyndromic hearing loss, and to compare the differences of gene mutation situs and frequency between Uighur and Han people. " 10/01/2009 - "To study mitochondrial DNA (mtDNA) A1555G mutation in seven families with nonsyndromic hearing loss (NSHL). "
3.	Connexin 26IBA 06/01/2022 - "Analysis of Genetic Variations in Connexin 26 ( GJB2 ) Gene among Nonsyndromic Hearing Impairment: Familial Study." 04/01/2008 - "This study aimed to assess mutations in GJB2 gene (connexin 26), as well as A1555G mitochondrial mutation in both the patients with profound genetic nonsyndromic hearing loss and healthy controls. " 06/01/2004 - "A study of patients with nonsyndromic hearing loss seen over a period of 2 years who had connexin 26 mutation testing. " 06/01/2001 - "To study the relation between nonsyndromic hearing loss in Chinese and mutations in connexin 26 (Cx 26) gene and to explore the pathogenic mechanism. " 06/01/2001 - "[Study on mutations in the connexin 26 gene among Chinese with nonsyndromic hearing loss]."
4.	12S ribosomal RNAIBA 05/10/2019 - "To explore the characteristics of mutations of four common pathogenic genes (GJB2, SLC26A4, GJB3 and 12S rRNA) among patients with nonsyndromic hearing loss (NSHL) from eastern Shandong. " 05/10/2019 - "[Analysis of GJB2, SLC26A4, GJB3 and 12S rRNA gene mutations among patients with nonsyndromic hearing loss from eastern Shandong]." 11/01/2014 - "To investigate the correlation between nonsyndromic deafness and mitochondrial 12s rRNA A839G mutation. " 07/04/2013 - "Genetic mutations of GJB2 and mitochondrial 12S rRNA in nonsyndromic hearing loss in Jiangsu Province of China." 01/01/2013 - "[Mitochondrial 12S rRNA A1555G mutation associated with nonsyndromic hearing loss in twenty-five Han Chinese pedigrees]."
5.	AminoglycosidesIBA 10/01/2018 - "Aminoglycoside-associated nonsyndromic deafness and speech disorder in mitochondrial A1555G mutation in a family: A case report." 07/01/2015 - "The clinical evaluation showed that 744 subjects (432 males and 312 females) had a history of exposure to aminoglycosides and other probands exhibited nonsyndromic hearing loss. " 08/01/2012 - "The B4b1c is a newly identified haplogroup in aminoglycoside-induced and nonsyndromic hearing loss family carrying the 1494C>T mutation. " 08/01/2012 - "Two Chinese Han pedigrees of maternally transmitted aminoglycoside induced and nonsyndromic hearing loss were collected. " 08/01/2011 - "[Maternally inherited aminoglycoside-induced and nonsyndromic hearing loss in five Han Chinese pedigrees]."
6.	ConnexinsIBA 09/01/2010 - "In this study, we investigate the prevalence and phenotype/genotype correlation of connexin (CX) gene family variants in a cohort of children with nonsyndromic hearing loss (HL). " 08/27/2008 - "Genetic studies have linked many nonsyndromic deafness patients to mutations in genes coding for gap junction proteins. " 03/01/2021 - "The mutations in two GJB2 and GJB6 (Gap Junction Protein Beta 2, 6) genes are responsible for nearly 50% of autosomal recessive nonsyndromic hearing loss. " 04/30/2018 - "Mutations of gap junction connexin genes induce a high incidence of nonsyndromic hearing loss. " 01/01/2015 - "The most prevalent mutations associated with autosomal recessive nonsyndromic hearing loss (ARNSHL) are found within connexin genes such as GJB2, mostly in people of European and Asian origin. "
7.	Proteins (Proteins, Gene)FDA Link 06/01/2005 - "Ectopic expression in L mouse fibroblasts (LM cells) of wild-type CLDN14 protein induced the formation of tight junctions, while both the c.254T>A (p.V85D) mutant, previously identified in a Pakistani family, and the c.301 G>A (p.G101R) mutant, identified in this study through the screen of 183 Spanish and Greek patients affected with sporadic nonsyndromic deafness, failed to form such junctions. " 08/22/2023 - "DFNB61 is a recessively inherited nonsyndromic hearing loss caused by mutations in SLC26A5 , the gene that encodes the voltage-driven motor protein, prestin. " 11/25/2022 - "It was first described as a specific protein in the inner ear relating to nonsyndromic hearing loss. " 01/01/2021 - "The impaired trafficking of mutant Cx26-p.Trp172Cys protein to the plasma membrane and reduced hemichannels permeability support the pathogenic effect of the c.516G>C (p.Trp172Cys) variant and its association with nonsyndromic hearing loss. " 05/01/2020 - "Pathogenic variants of USH1C, encoding a PDZ-domain-containing protein called harmonin, have been known to cause autosomal recessive syndromic or nonsyndromic hearing loss (NSHL). "
8.	DNA (Deoxyribonucleic Acid)IBA 01/01/2022 - "Here we report on DNA variants in MINAR2, encoding membrane integral NOTCH2-associated receptor 2, in four families underlying autosomal recessive nonsyndromic deafness. " 12/01/2018 - "Further, 50 DNA samples from unrelated families with nonsyndromic deafness were examined for frequency determination. " 01/01/2018 - "Identification of Pathogenic Genes of Nonsyndromic Hearing Loss in Uyghur Families Using Massively Parallel DNA Sequencing Technique." 01/01/2016 - "Although there are nearly 100 different causative genes identified for nonsyndromic hearing loss (NSHL), Sanger sequencing-based DNA diagnostics usually only analyses three, namely, GJB2, SLC26A4, and OTOF. " 05/01/2015 - "Mutations in the MYO15A gene are a significant cause of nonsyndromic hearing loss: massively parallel DNA sequencing-based analysis."
9.	human GJB3 proteinIBA 08/01/2014 - "In a recent study, we have identified a missense mutation, p.V174M, in the connexin 31 encoded by the GJB3 gene, in a patient with nonsyndromic hearing loss. " 06/01/2004 - "To study the relation between hereditary nonsyndromic hearing impairment (NSHI) in Chinese and mutation in Connexin 31 (Cx31) gene and to explore the pathogenic mechanism. "
10.	Ser Transfer RNAIBA 12/01/2016 - "The mutations in GJB2, GJB3, GJB6, SLC26A4 genes, 12SrRNA and tRNASer(UCN) were tested in a Chinese family with autosomal dominant nonsyndromic hearing loss. " 08/01/2013 - "Moreover, five mutations associated with nonsyndromic hearing loss have been identified in the tRNA(Ser(UCN)) gene: A7445G, 7472insC, T7505C, T7510C, and T7511C. " 01/01/2004 - "Biochemical characterization of the mitochondrial tRNASer(UCN) T7511C mutation associated with nonsyndromic deafness." 12/01/2002 - "We identified the T7511C mutation in the tRNASer(UCN) gene in two French families with isolated deafness. " 08/01/2002 - "Families with maternally transmitted nonsyndromic hearing loss should be investigated for mutations in the tRNA(Ser(UCN)) gene."

Therapies and Procedures

1.	Cochlear Implants (Cochlear Implant) 01/01/2015 - "In this study, we investigated the genetic etiology of autosomal recessive nonsyndromic hearing loss (ARNSHL) in a Turkish cohort including individuals with cochlear implant, who had a pedigree suggestive of an autosomal recessive inheritance. " 04/24/2007 - "[Analysis of genetic mutation in patients with nonsyndromic hearing loss received cochlear implant]." 04/24/2007 - "To investigate the prevalence of mutations of the gap junction protein (GJB) 2 and mitochondria 12SrRNA in patients with nonsyndromic hearing loss who received cochlear implant. "
2.	Ligation 10/01/2009 - "The aim of the study was to determine (1) the frequency and type of mutations in the coding region of the GJB2 gene (sequencing), (2) the frequency of splice site mutation IVS1 + 1G > A in the GJB2 gene (multiplex ligation-dependent probe amplification analysis), (3) possible copy number changes in the GJB2, GJB3, GJB6, and WFS1 genes (multiplex ligation-dependent probe amplification analysis), and (4) the frequency of del(GJB6-D13S1830) in the GJB6 gene in 58 unrelated patients with nonsyndromic hearing loss from Croatia. "
3.	Cochlear Implantation 09/01/2014 - "Auditory outcome after cochlear implantation in patients with congenital nonsyndromic hearing loss: influence of the GJB2 status." 01/01/2011 - "We investigated the effect of mutations in GJB2 gene on the outcome of cochlear implantation in a population with a high rate of consanguineous marriage and autosomal recessive nonsyndromic hearing loss. " 01/01/2011 - "Clinical Application of Screening for GJB2 Mutations before Cochlear Implantation in a Heterogeneous Population with High Rate of Autosomal Recessive Nonsyndromic Hearing Loss." 01/01/2001 - "[An attempt to identify the most frequent genomic mutations responsible for isolated deafness in patients after cochlear implantation]." 04/01/2012 - "To review the genotype and cochlear implantation outcome of patients with nonsyndromic hearing loss and enlarged vestibular aqueduct. "
4.	Therapeutics 01/01/2021 - "Novel KCNQ4 variants in different functional domains confer genotype- and mechanism-based therapeutics in patients with nonsyndromic hearing loss." 12/01/2017 - "NLRP3 mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy."
5.	Otoscopes 05/31/2020 - "In a large family of European descent (MORL-ADF1) segregating autosomal dominant nonsyndromic hearing loss, we used the OtoSCOPE platform to identify the genetic cause of deafness. "