Genes (44)
Species:
human : 44 | |
| Human | DFNB59 | 494513 | deafness, autosomal recessive 59 | data indicate that nonsense mutations in DFNB59 cause nonsyndromic hearing loss, but that mutations in DFNB59 are not a major cause of nonsyndromic hearing impairment in the Turkish and Dutch population Mutations in DFNB59 are associated with autosomal recessive non-syndromic hearing loss in about 6.7% of GJB2-negative families | | Human | DFNA54 | 448962 | deafness, autosomal dominant 54 | maps to 5q31, deficiency causes low-frequency hearing loss | | Human | SLC26A5 | 375611 | solute carrier family 26 (anion exchanger), member 5 | Title:High frequency of the IVS2-2A>G DNA sequence variation in SLC26A5, encoding the cochlear motor protein prestin, precludes its involvement in hereditary hearing loss.|Association:Not Found|Conclusion:These data suggest that the IVS2-2A>G variant may not occur more frequently in hearing impaired subjects than in controls. The identification of five potential alternative splice acceptor sites in intron 2 of human SLC26A5 suggests a potential mechanism by which expression of prestin might be maintained in cells carrying the SLC26A5 IVS2-2A>G DNA sequence variation. Additional studies are needed to evaluate the effect of the IVS2-2A>G transition on splicing of SLC26A5 transcripts and characterize the hearing status of individuals homozygous for the IVS2-2A>G variant. | | Human | TMIE | 259236 | transmembrane inner ear | genetic mapping data support human TMIE as the gene affected at DFNB6, a non-syndromic hearing loss locus | | Human | LRTOMT | 220074 | leucine rich transmembrane and O-methyltransferase domain containing | Mutations of LRTOMT are associated with profound nonsyndromic hearing loss at the DFNB63 locus on human chromosome 11q13.3-q13.4 | | Human | ESPN | 83715 | espin | Title:Espin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organization.|Association:Y|Conclusion:The results further strengthen the causative role of the espin gene in non-syndromic hearing loss and add new insights into espin structure and function. The results further strengthen the causative role of the espin gene in non-syndromic hearing loss and add new insights into espin structure and function | | Human | PCDH15 | 65217 | protocadherin-related 15 | Here we report that non-syndromic recessive hearing loss (DFNB23) is caused by missense mutations of PCDH15 | | Human | TMPRSS3 | 64699 | transmembrane protease, serine 3 | Disruption of the proteolytic activity of TMPRSS3 is tightly correlated with the pathogenesis of hearing loss The identification of two novel pathogenic TMPRSS3 mutations (c.646C-->T - R216C; c.916G-->A - A306T) is described in four affected siblings of German origin with postlingual hearing loss, treated by bilateral cochlear implantation with good results | | Human | CDH23 | 64072 | cadherin-related 23 | Screening revealed that in Japanese, mutation in CDH23 is the major causes of hearing loss patients with mutations in CDH23 display a wide range of hearing loss and retinitis pigmentosa phenotypes Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family Missense mutations in CDH23 have been associated with presbycusis and nonsyndromic prelingual hearing loss (DFNB12), whereas null alleles cause the majority of Usher syndrome (Usher 1D) analysis of CDH23 mutations in Japanese patients with non-syndromic hearing loss | | Human | GJD2 | 57369 | gap junction protein, delta 2, 36kDa | Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family | | Human | SALL4 | 57167 | sal-like 4 (Drosophila) | mutation in the SALL4 gene causes IVIC syndrome(an autosomal dominant condition,hearing loss, heart murmur..) | | Human | TRIOBP | 11078 | TRIO and F-actin binding protein | Mutations in a novel isoform of TRIOBP that encodes a filamentous-actin binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss | | Human | GJB6 | 10804 | gap junction protein, beta 6, 30kDa | The frequency for the del(GJB6-D13S1830) was 2.5% in Venezuelan patients with autosomal recessive nonsyndromic hearing loss Title:Connexin 26 variants and auditory neuropathy/dys-synchrony among children in schools for the deaf.|Association:Not Found|Conclusion:Not Found Title:Prevalence of GJB2 mutations and the del(GJB6-D13S1830) in Argentinean non-syndromic deaf patients.|Association:Not Found|Conclusion:Not Found Title:GJB2 and GJB6 mutations in 165 Danish patients showing non-syndromic hearing impairment|Association:Y|Conclusion:In conclusion, our data are in accordance with results from other Northern European populations. Furthermore, our data on the GJB6 deletion suggest that routine screening for this deletion could help to explain hearing impairment in some Northern European NSHI patients heterozygous for a mutation in GJB2. frequency of 35delG was about 18.5%, however, del(GJB6-D13S1830) was not found in the studied patients with autosomal recessive non-syndromic hearing loss; results support founder effect regarding these mutations Title:Cx26 gene mutations in idiopathic progressive hearing loss.|Association:Not Found|Conclusion:About 23% of our patients (nine subjects) presented with mutations in GJB2, and 18% (seven subjects) were heterozygous. However, most of the described mutations are recessive, so a monogenic model of inheritance cannot explain the deafness phenotype. On the basis of these findings, we can speculate that the heterozygote Cx26 genotype could be a cause of progressive hearing loss, probably in association with mutations in other alleles. Thus, we recommend carefully following all hearing-impaired subjects with GJB2 mutations, even if they present with only mild hearing loss, because the hearing deficit could worsen. Furthermore, molecular analysis of the Cx26 gene should also be performed in adult patients affected with idiopathic progressive hearing loss. Title:Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study.|Association:Not Found|Conclusion:Our results also suggest that additional mutations remain to be identified, either in DFNB1 or in other unlinked genes involved in epistatic interactions with GJB2. Analysis of haplotypes associated with the deletion revealed a founder effect in Ashkenazi Jews and also suggested a common founder for countries in Western Europe. These results have important implications for the diagnosis and counseling of families with DFNB1 deafness. homozygous deletion of a region encompassing this gene causes non syndromic hearing loss Title:Connexin 26 and connexin 30 mutations in children with nonsyndromic hearing loss.|Association:Not Found|Conclusion:Cx26 and Cx30 mutations were present in 41.2% of children tested in the study population. Audiometric data supported previous studies demonstrating a greater degree of hearing loss in subjects who are homozygous for the 35delG mutation. Title:The frequency of GJB2 and GJB6 mutations in the New York State newborn population: feasibility ofgenetic screening for hearing defects|Association:Not Found|Conclusion:Once the positive samples had been identified, the samples were pooled and retested. All positives in the individual experiment were correctly identified in the pooled experiment. The same random set of anonymous newborn dried blood specimens plus some additional samples were tested (n = 2112) for the 342-kb deletion in the GJB6 gene. The large GJB6 deletion was not found in the Austrian non-syndromic hearing loss patients | | Human | OTOF | 9381 | otoferlin | Mutations in OTOF cause both profound hearing loss and a type of hearing loss where otoacoustic emissions are spared called auditory neuropathy Q829X, a novel mutation in OTOF, is the third most frequent mutation causing prelingual non-syndromic hearing loss reported so far in the Spanish population | | Human | WFS1 | 7466 | Wolfram syndrome 1 (wolframin) | one-third (3 out of 9) autosomal dominant low frequency sensorineural hearing loss(LFSNHL) families had mutations in WFS1, indicating that in non-syndromic hearing loss WFS1 is restrictively & commonly found within autosomal dominant LFSNHL families Mutations in one single gene, Wolfram syndrome 1 (WFS1), have been reported to account for most familial cases with low-frequency hearing loss Missense mutations within a defined region are associated with dominant low-frequency hearing loss (DFNA6/14/38), while more severe mutations spanning WFS1 are found in Wolfram syndrome patients | | Human | TECTA | 7007 | tectorin alpha | cysteine substitution in the zona pellucida domain of alpha-tectorin results in autosomal dominant, postlingual, progressive, mid frequency hearing loss in a Spanish family Identification of a p.Cys1837Arg autosomal dominant mutation in alpha-tectorin segregating in family members with non-syndromic hearing loss distinctive phenotype associated with homozygosity for two novel frameshift mutations (649insC and 6037delG) of TECTA cosegregating with hearing loss linked to DFNB21 Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation Study described six TECTA mutations in autosomal recessive nonsyndromic hearing loss Iranian families | | Human | SOD2 | 6648 | superoxide dismutase 2, mitochondrial | Title:Paraoxonase and Superoxide Dismutase Gene Polymorphisms and Noise-Induced Hearing Loss|Association:Not Found|Conclusion:Our data suggest that SOD2 and PON2 polymorphisms, by exerting variable local tissue antioxidant roles, could predispose to NIHL. However, caution should be exercised in interpreting these data given the small sample size and the difficulty in matching cases to controls regarding the overwhelming risk factor, i.e., smoking at least 10 cigarettes/day. | | Human | RDX | 5962 | radixin | 2 mutant alleles of RDX in 2 consanguineous families associated with neurosensory hearing loss; sequence analysis of RDX from original DFNB24 family revealed a c.463C>T transition substitution predicted to truncate radixin in the FERM domain | | Human | PON2 | 5445 | paraoxonase 2 | Title:Paraoxonase and Superoxide Dismutase Gene Polymorphisms and Noise-Induced Hearing Loss|Association:Not Found|Conclusion:Our data suggest that SOD2 and PON2 polymorphisms, by exerting variable local tissue antioxidant roles, could predispose to NIHL. However, caution should be exercised in interpreting these data given the small sample size and the difficulty in matching cases to controls regarding the overwhelming risk factor, i.e., smoking at least 10 cigarettes/day. | | Human | PON1 | 5444 | paraoxonase 1 | Title:Paraoxonase and Superoxide Dismutase Gene Polymorphisms and Noise-Induced Hearing Loss|Association:Not Found|Conclusion:Our data suggest that SOD2 and PON2 polymorphisms, by exerting variable local tissue antioxidant roles, could predispose to NIHL. However, caution should be exercised in interpreting these data given the small sample size and the difficulty in matching cases to controls regarding the overwhelming risk factor, i.e., smoking at least 10 cigarettes/day. | | Human | PLAT | 5327 | plasminogen activator, tissue | Title:Platelet GPIaC807T polymorphism is associated with negative outcome of sudden hearing loss.|Association:Not Found|Conclusion:The single-nucleotide polymorphism of GPIa C807T seems to play a role as a prognostic factor in recovery from sudden hearing loss. | | Human | SLC26A4 | 5172 | solute carrier family 26 (anion exchanger), member 4 | no apparent correlation found between phenotypes and genotypes in hearing loss patients variability in the degree of hearing loss is seen across genotypes implicating other genetic and/or environmental factors in the pathogenesis of Pendred syndrome, non-syndromic enlarged vestibular aqueduct, and Mondini dysplasia Title:Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans|Association:Y|Conclusion:The high proportion of Korean probands with two SLC26A4 mutations may reflect a reduced frequency of other genetic or environmental factors causing EVA in comparison to western populations. SLC26A4 gene mutation is associated with Pendred syndrome and DFNB4 hearing loss Screening revealed that in Japanese, mutation in SLC26A4 is the major causes of hearing loss In a population of pediatric patients with an enlarged vestibular aqueduct and hearing loss, SLC26A4 mutations are a contributor to the phenotype | | Human | SERPINE1 | 5054 | serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 | Title:Platelet GPIaC807T polymorphism is associated with negative outcome of sudden hearing loss.|Association:Not Found|Conclusion:The single-nucleotide polymorphism of GPIa C807T seems to play a role as a prognostic factor in recovery from sudden hearing loss. | | Human | OPA1 | 4976 | optic atrophy 1 (autosomal dominant) | This study establishes a firm causal relationship between the Arg455His mutation, optic atrophy, and associated hearing loss | | Human | MYO7A | 4647 | myosin VIIA | A new heterozygous missense mutation (c.2557C>T; p.R853C) was found in autosomal dominant non-syndromic hearing loss that changes an invariant residue of the fifth IQ motif, a putative calmodulin (CaM) binding domain Title:[Mutation screening in selected exons of myosin 7a gene in prelingual non-syndromic hearing impairment patients]|Association:Y|Conclusion:The Arg206Gln mutation in exon 7 of myosin 7a is possibly a novel mutation to cause prelingual nonsyndromic hearing impairment. Our results provide the evidence that exon 7 of Myosin 7a is a mutational hotspot region in genetic deafness. |
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