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:

# 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:

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

Variations for Dfna2 Nonsyndromic Hearing Loss

ClinVar genetic disease variations for Dfna2 Nonsyndromic Hearing Loss:

6 (show all 34)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KCNQ4 NM_004700.4(KCNQ4):c.853G>T (p.Gly285Cys) SNV Pathogenic 6244 rs28937588 1:41285565-41285565 1:40819893-40819893
2 KCNQ4 NM_004700.4(KCNQ4):c.212_224del (p.Gln71fs) Deletion Pathogenic 6245 rs80358271 1:41249976-41249988 1:40784304-40784316
3 KCNQ4 NM_004700.4(KCNQ4):c.842T>C (p.Leu281Ser) SNV Pathogenic 6246 rs80358278 1:41285554-41285554 1:40819882-40819882
4 KCNQ4 NM_004700.4(KCNQ4):c.211del (p.Gln71fs) Deletion Pathogenic 6248 rs80358272 1:41249975-41249975 1:40784303-40784303
5 KCNQ4 NM_004700.4(KCNQ4):c.886G>A (p.Gly296Ser) SNV Pathogenic 6249 rs80358279 1:41285598-41285598 1:40819926-40819926
6 KCNQ4 NM_004700.4(KCNQ4):c.827G>C (p.Trp276Ser) SNV Pathogenic 6242 rs80358277 1:41285137-41285137 1:40819465-40819465
7 KCNQ4 NM_004700.4(KCNQ4):c.859G>C (p.Gly287Arg) SNV Pathogenic 156337 rs137853969 1:41285571-41285571 1:40819899-40819899
8 KCNQ4 NM_004700.4(KCNQ4):c.226_227GC[3] (p.His77fs) Microsatellite Pathogenic 208364 rs1553165199 1:41249989-41249990 1:40784317-40784318
9 KCNQ4 NM_004700.4(KCNQ4):c.1044_1051del (p.Ala349Profs) Deletion Pathogenic 208372 rs797044972 1:41287988-41287995 1:40822313-40822320
10 KCNQ4 NM_004700.4(KCNQ4):c.546C>G (p.Phe182Leu) SNV Pathogenic 21424 rs80358273 1:41284190-41284190 1:40818518-40818518
11 KCNQ4 NM_004700.4(KCNQ4):c.778G>A (p.Glu260Lys) SNV Pathogenic 21426 rs80358274 1:41285088-41285088 1:40819416-40819416
12 KCNQ4 NM_004700.4(KCNQ4):c.785A>T (p.Asp262Val) SNV Pathogenic 21427 rs80358275 1:41285095-41285095 1:40819423-40819423
13 KCNQ4 NM_004700.4(KCNQ4):c.140T>C (p.Leu47Pro) SNV Pathogenic 585006 rs1271250198 1:41249905-41249905 1:40784233-40784233
14 KCNQ4 NM_004700.4(KCNQ4):c.796G>T (p.Asp266Tyr) SNV Pathogenic 591002 rs1558014576 1:41285106-41285106 1:40819434-40819434
15 KCNQ4 NM_004700.4(KCNQ4):c.853G>A (p.Gly285Ser) SNV Pathogenic 6241 rs28937588 1:41285565-41285565 1:40819893-40819893
16 KCNQ4 NM_004700.4(KCNQ4):c.821T>A (p.Leu274His) SNV Pathogenic 6247 rs80358276 1:41285131-41285131 1:40819459-40819459
17 KCNQ4 NM_004700.4(KCNQ4):c.689T>A (p.Val230Glu) SNV Pathogenic 208365 rs797044965 1:41284333-41284333 1:40818661-40818661
18 KCNQ4 NM_004700.4(KCNQ4):c.808T>C (p.Tyr270His) SNV Pathogenic 208367 rs797044967 1:41285118-41285118 1:40819446-40819446
19 KCNQ4 NM_004700.4(KCNQ4):c.823T>C (p.Trp275Arg) SNV Pathogenic 208368 rs797044968 1:41285133-41285133 1:40819461-40819461
20 KCNQ4 NM_004700.4(KCNQ4):c.871C>T (p.Pro291Ser) SNV Pathogenic 208369 rs797044969 1:41285583-41285583 1:40819911-40819911
21 KCNQ4 NM_004700.4(KCNQ4):c.872C>T (p.Pro291Leu) SNV Pathogenic 208370 rs797044970 1:41285584-41285584 1:40819912-40819912
22 KCNQ4 NM_004700.4(KCNQ4):c.891G>T (p.Arg297Ser) SNV Pathogenic 208371 rs797044971 1:41285603-41285603 1:40819931-40819931
23 KCNQ4 NM_004700.4(KCNQ4):c.2039C>T (p.Ser680Phe) SNV Pathogenic 208373 rs772135867 1:41304146-41304146 1:40838474-40838474
24 KCNQ4 NM_004700.4(KCNQ4):c.803_805CCT[1] (p.Ser269del) Microsatellite Pathogenic 208366 rs797044966 1:41285111-41285113 1:40819439-40819441
25 KCNQ4 NM_004700.4(KCNQ4):c.261_269del (p.Tyr88_Val90del) Deletion Pathogenic 625441 rs1557977732 1:41250024-41250032 1:40784352-40784360
26 KCNQ4 NM_004700.4(KCNQ4):c.961G>A (p.Gly321Ser) SNV Pathogenic/Likely pathogenic 6243 rs28939710 1:41285852-41285852 1:40820180-40820180
27 KCNQ4 NM_004700.4(KCNQ4):c.859G>A (p.Gly287Ser) SNV Likely pathogenic 979187 1:41285571-41285571 1:40819899-40819899
28 KCNQ4 NM_004700.4(KCNQ4):c.1503C>T (p.Thr501=) SNV Uncertain significance 21423 rs80358270 1:41296966-41296966 1:40831294-40831294
29 KCNQ4 NM_004700.4(KCNQ4):c.682G>T (p.Gly228Cys) SNV Uncertain significance 504603 rs367890569 1:41284326-41284326 1:40818654-40818654
30 KCNQ4 NM_004700.4(KCNQ4):c.829G>A (p.Gly277Arg) SNV Uncertain significance 178690 rs727504459 1:41285139-41285139 1:40819467-40819467
31 KCNQ4 NM_004700.4(KCNQ4):c.648C>T (p.Arg216=) SNV Benign 21425 rs80358269 1:41284292-41284292 1:40818620-40818620
32 KCNQ4 NM_004700.4(KCNQ4):c.708+14G>C SNV Benign 45104 rs2361660 1:41284366-41284366 1:40818694-40818694
33 KCNQ4 NM_004700.4(KCNQ4):c.777T>C (p.Ala259=) SNV Benign 45105 rs4660468 1:41285087-41285087 1:40819415-40819415
34 KCNQ4 NM_004700.4(KCNQ4):c.1365T>G (p.His455Gln) SNV Benign 45101 rs34287852 1:41296828-41296828 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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....