MCID: DFN001
MIFTS: 12

Dfna2 Nonsyndromic Hearing Loss

Categories: Ear diseases

Aliases & Classifications for Dfna2 Nonsyndromic Hearing Loss

MalaCards integrated aliases for Dfna2 Nonsyndromic Hearing Loss:

Name: Dfna2 Nonsyndromic Hearing Loss 25
Dfna 2 Nonsyndromic Hearing Loss 6

Characteristics:

GeneReviews:

25
Penetrance The penetrance is complete. all individuals with a heterozygous kcnq4 pathogenic variant exhibit the hearing loss phenotype; onset age and severity are variable.

Classifications:



Summaries for Dfna2 Nonsyndromic Hearing Loss

MalaCards based summary : Dfna2 Nonsyndromic Hearing Loss, also known as dfna 2 nonsyndromic hearing loss, is related to ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus and sensorineural hearing loss. An important gene associated with Dfna2 Nonsyndromic Hearing Loss is KCNQ4 (Potassium Voltage-Gated Channel Subfamily Q Member 4).

GeneReviews: NBK1209

Related Diseases for Dfna2 Nonsyndromic Hearing Loss

Diseases related to Dfna2 Nonsyndromic Hearing Loss via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 3, show less)
# Related Disease Score Top Affiliating Genes
1 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
2 sensorineural hearing loss 10.2
3 nonsyndromic hearing loss 10.2

Symptoms & Phenotypes for Dfna2 Nonsyndromic Hearing Loss

Drugs & Therapeutics for Dfna2 Nonsyndromic Hearing Loss

Search Clinical Trials , NIH Clinical Center for Dfna2 Nonsyndromic Hearing Loss

Genetic Tests for Dfna2 Nonsyndromic Hearing Loss

Anatomical Context for Dfna2 Nonsyndromic Hearing Loss

Publications for Dfna2 Nonsyndromic Hearing Loss

Articles related to Dfna2 Nonsyndromic Hearing Loss:

(showing 27, show less)
# Title Authors PMID Year
1
Targeted high-throughput sequencing identifies pathogenic mutations in KCNQ4 in two large Chinese families with autosomal dominant hearing loss. 25 6
25116015 2014
2
A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype-phenotype correlation. 25 6
16596322 2006
3
A mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairment. 25 6
12112653 2002
4
Clinical and genetic features of nonsyndromic autosomal dominant sensorineural hearing loss: KCNQ4 is a gene responsible in Japanese. 25 6
11450843 2001
5
Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region. 25 6
10925378 2000
6
KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness. 25 6
10025409 1999
7
Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing loss. 6 25
10571947 1999
8
A novel frameshift mutation in KCNQ4 in a family with autosomal recessive non-syndromic hearing loss. 6
26036578 2015
9
Identification of a novel in-frame deletion in KCNQ4 (DFNA2A) and evidence of multiple phenocopies of unknown origin in a family with ADSNHL. 6
23443030 2013
10
Moderate hearing loss associated with a novel KCNQ4 non-truncating mutation located near the N-terminus of the pore helix. 6
23399560 2013
11
Comprehensive genetic screening of KCNQ4 in a large autosomal dominant nonsyndromic hearing loss cohort: genotype-phenotype correlations and a founder mutation. 6
23717403 2013
12
In silico modeling of the pore region of a KCNQ4 missense mutant from a patient with hearing loss. 6
22420747 2012
13
Cellular and molecular mechanisms of autosomal dominant form of progressive hearing loss, DFNA2. 6
20966080 2011
14
A novel KCNQ4 pore-region mutation (p.G296S) causes deafness by impairing cell-surface channel expression. 6
18030493 2008
15
Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families. 6
8035838 1994
16
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. 25
26969326 2016
17
Timing, rates and spectra of human germline mutation. 25
26656846 2016
18
A Japanese family showing high-frequency hearing loss with KCNQ4 and TECTA mutations. 25
24655070 2014
19
Identification of novel mutations in the KCNQ4 gene of patients with nonsyndromic deafness from Taiwan. 25
17033161 2007
20
Phenotype determination guides swift genotyping of a DFNA2/KCNQ4 family with a hot spot mutation (W276S). 25
15699719 2005
21
Longitudinal and cross-sectional phenotype analysis in a new, large Dutch DFNA2/KCNQ4 family. 25
11915881 2002
22
DFNA2/KCNQ4 and its manifestations. 25
12408061 2002
23
A Dutch family with progressive sensorineural hearing impairment linked to the DFNA2 region. 25
10784363 2000
24
Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families. 25
10369879 1999
25
Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. 25
9843210 1998
26
Inherited nonsyndromic hearing loss. An audiovestibular study in a large family with autosomal dominant progressive hearing loss related to DFNA2. 25
9193215 1997
27
DFNA2 Nonsyndromic Hearing Loss 61
20301388 2008

Variations for Dfna2 Nonsyndromic Hearing Loss

ClinVar genetic disease variations for Dfna2 Nonsyndromic Hearing Loss:

6 (showing 35, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KCNQ4 NM_004700.4(KCNQ4):c.853G>T (p.Gly285Cys) SNV Pathogenic 6244 rs28937588 GRCh37: 1:41285565-41285565
GRCh38: 1:40819893-40819893
2 KCNQ4 NM_004700.4(KCNQ4):c.212_224del (p.Gln71fs) Deletion Pathogenic 6245 rs80358271 GRCh37: 1:41249976-41249988
GRCh38: 1:40784304-40784316
3 KCNQ4 NM_004700.4(KCNQ4):c.842T>C (p.Leu281Ser) SNV Pathogenic 6246 rs80358278 GRCh37: 1:41285554-41285554
GRCh38: 1:40819882-40819882
4 KCNQ4 NM_004700.4(KCNQ4):c.211del (p.Gln71fs) Deletion Pathogenic 6248 rs80358272 GRCh37: 1:41249975-41249975
GRCh38: 1:40784303-40784303
5 KCNQ4 NM_004700.4(KCNQ4):c.886G>A (p.Gly296Ser) SNV Pathogenic 6249 rs80358279 GRCh37: 1:41285598-41285598
GRCh38: 1:40819926-40819926
6 KCNQ4 NM_004700.4(KCNQ4):c.827G>C (p.Trp276Ser) SNV Pathogenic 6242 rs80358277 GRCh37: 1:41285137-41285137
GRCh38: 1:40819465-40819465
7 KCNQ4 NM_004700.4(KCNQ4):c.859G>C (p.Gly287Arg) SNV Pathogenic 156337 rs137853969 GRCh37: 1:41285571-41285571
GRCh38: 1:40819899-40819899
8 KCNQ4 NM_004700.4(KCNQ4):c.226_227GC[3] (p.His77fs) Microsatellite Pathogenic 208364 rs1553165199 GRCh37: 1:41249989-41249990
GRCh38: 1:40784317-40784318
9 KCNQ4 NM_004700.4(KCNQ4):c.1044_1051del (p.Ala349Profs) Deletion Pathogenic 208372 rs797044972 GRCh37: 1:41287988-41287995
GRCh38: 1:40822313-40822320
10 KCNQ4 NM_004700.4(KCNQ4):c.546C>G (p.Phe182Leu) SNV Pathogenic 21424 rs80358273 GRCh37: 1:41284190-41284190
GRCh38: 1:40818518-40818518
11 KCNQ4 NM_004700.4(KCNQ4):c.778G>A (p.Glu260Lys) SNV Pathogenic 21426 rs80358274 GRCh37: 1:41285088-41285088
GRCh38: 1:40819416-40819416
12 KCNQ4 NM_004700.4(KCNQ4):c.785A>T (p.Asp262Val) SNV Pathogenic 21427 rs80358275 GRCh37: 1:41285095-41285095
GRCh38: 1:40819423-40819423
13 KCNQ4 NM_004700.4(KCNQ4):c.140T>C (p.Leu47Pro) SNV Pathogenic 585006 rs1271250198 GRCh37: 1:41249905-41249905
GRCh38: 1:40784233-40784233
14 KCNQ4 NM_004700.4(KCNQ4):c.796G>T (p.Asp266Tyr) SNV Pathogenic 591002 rs1558014576 GRCh37: 1:41285106-41285106
GRCh38: 1:40819434-40819434
15 KCNQ4 NM_004700.4(KCNQ4):c.853G>A (p.Gly285Ser) SNV Pathogenic 6241 rs28937588 GRCh37: 1:41285565-41285565
GRCh38: 1:40819893-40819893
16 KCNQ4 NM_004700.4(KCNQ4):c.821T>A (p.Leu274His) SNV Pathogenic 6247 rs80358276 GRCh37: 1:41285131-41285131
GRCh38: 1:40819459-40819459
17 KCNQ4 NM_004700.4(KCNQ4):c.689T>A (p.Val230Glu) SNV Pathogenic 208365 rs797044965 GRCh37: 1:41284333-41284333
GRCh38: 1:40818661-40818661
18 KCNQ4 NM_004700.4(KCNQ4):c.808T>C (p.Tyr270His) SNV Pathogenic 208367 rs797044967 GRCh37: 1:41285118-41285118
GRCh38: 1:40819446-40819446
19 KCNQ4 NM_004700.4(KCNQ4):c.823T>C (p.Trp275Arg) SNV Pathogenic 208368 rs797044968 GRCh37: 1:41285133-41285133
GRCh38: 1:40819461-40819461
20 KCNQ4 NM_004700.4(KCNQ4):c.871C>T (p.Pro291Ser) SNV Pathogenic 208369 rs797044969 GRCh37: 1:41285583-41285583
GRCh38: 1:40819911-40819911
21 KCNQ4 NM_004700.4(KCNQ4):c.872C>T (p.Pro291Leu) SNV Pathogenic 208370 rs797044970 GRCh37: 1:41285584-41285584
GRCh38: 1:40819912-40819912
22 KCNQ4 NM_004700.4(KCNQ4):c.891G>T (p.Arg297Ser) SNV Pathogenic 208371 rs797044971 GRCh37: 1:41285603-41285603
GRCh38: 1:40819931-40819931
23 KCNQ4 NM_004700.4(KCNQ4):c.2039C>T (p.Ser680Phe) SNV Pathogenic 208373 rs772135867 GRCh37: 1:41304146-41304146
GRCh38: 1:40838474-40838474
24 KCNQ4 NM_004700.4(KCNQ4):c.803_805CCT[1] (p.Ser269del) Microsatellite Pathogenic 208366 rs797044966 GRCh37: 1:41285111-41285113
GRCh38: 1:40819439-40819441
25 KCNQ4 NM_004700.4(KCNQ4):c.261_269del (p.Tyr88_Val90del) Deletion Pathogenic 625441 rs1557977732 GRCh37: 1:41250024-41250032
GRCh38: 1:40784352-40784360
26 KCNQ4 NM_004700.4(KCNQ4):c.961G>A (p.Gly321Ser) SNV Pathogenic/Likely pathogenic 6243 rs28939710 GRCh37: 1:41285852-41285852
GRCh38: 1:40820180-40820180
27 KCNQ4 NM_004700.4(KCNQ4):c.859G>A (p.Gly287Ser) SNV Likely pathogenic 979187 GRCh37: 1:41285571-41285571
GRCh38: 1:40819899-40819899
28 KCNQ4 NM_004700.4(KCNQ4):c.1565C>T (p.Thr522Met) SNV Uncertain significance 1032259 GRCh37: 1:41298737-41298737
GRCh38: 1:40833065-40833065
29 KCNQ4 NM_004700.4(KCNQ4):c.1503C>T (p.Thr501=) SNV Uncertain significance 21423 rs80358270 GRCh37: 1:41296966-41296966
GRCh38: 1:40831294-40831294
30 KCNQ4 NM_004700.4(KCNQ4):c.682G>T (p.Gly228Cys) SNV Uncertain significance 504603 rs367890569 GRCh37: 1:41284326-41284326
GRCh38: 1:40818654-40818654
31 KCNQ4 NM_004700.4(KCNQ4):c.829G>A (p.Gly277Arg) SNV Uncertain significance 178690 rs727504459 GRCh37: 1:41285139-41285139
GRCh38: 1:40819467-40819467
32 KCNQ4 NM_004700.4(KCNQ4):c.648C>T (p.Arg216=) SNV Benign 21425 rs80358269 GRCh37: 1:41284292-41284292
GRCh38: 1:40818620-40818620
33 KCNQ4 NM_004700.4(KCNQ4):c.708+14G>C SNV Benign 45104 rs2361660 GRCh37: 1:41284366-41284366
GRCh38: 1:40818694-40818694
34 KCNQ4 NM_004700.4(KCNQ4):c.777T>C (p.Ala259=) SNV Benign 45105 rs4660468 GRCh37: 1:41285087-41285087
GRCh38: 1:40819415-40819415
35 KCNQ4 NM_004700.4(KCNQ4):c.1365T>G (p.His455Gln) SNV Benign 45101 rs34287852 GRCh37: 1:41296828-41296828
GRCh38: 1:40831156-40831156

Expression for Dfna2 Nonsyndromic Hearing Loss

Search GEO for disease gene expression data for Dfna2 Nonsyndromic Hearing Loss.

Pathways for Dfna2 Nonsyndromic Hearing Loss

GO Terms for Dfna2 Nonsyndromic Hearing Loss

Sources for Dfna2 Nonsyndromic Hearing Loss

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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