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Autosomal dominant nonsyndromic hearing loss

MedGen UID:
1843285
•Concept ID:
C5779548
•
Disease or Syndrome
Synonym: Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Related genes: CISD2, MIR96, SLC17A8, CCDC50, TMC1, GRHL2, MYH14, DIABLO, P2RX2, GJB6, RIPOR2, KCNQ4, WFS1, TECTA, SIX1, REST, POU4F3, MYO7A, MYO6, MYH9, LMX1A, GJB3, GJB2, EYA4, DIAPH1, COCH, GSDME, COL11A2, ACTG1
 
Monarch Initiative: MONDO:0019587
OMIM® Phenotypic series: PS124900
Orphanet: ORPHA90635

Definition

Autosomal dominant form of nonsyndromic deafness. [from MONDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

COCH-related autosomal dominant nonsyndromic hearing loss: a phenotype-genotype study.
Oh KS, Walls D, Joo SY, Kim JA, Yoo JE, Koh YI, Kim DH, Rim JH, Choi HJ, Kim HY, Yu S, Smith RJ, Choi JY, Gee HY, Jung J
Hum Genet 2022 Apr;141(3-4):889-901. Epub 2021 Sep 16 doi: 10.1007/s00439-021-02368-y. PMID: 34529116Free PMC Article
Novel KCNQ4 variants in different functional domains confer genotype- and mechanism-based therapeutics in patients with nonsyndromic hearing loss.
Lee SY, Choi HB, Park M, Choi IS, An J, Kim A, Kim E, Kim N, Han JH, Kim MY, Lee SM, Oh DY, Kim BJ, Yi N, Kim NKD, Lee C, Park WY, Koh YI, Gee HY, Cho HS, Kang TM, Choi BY
Exp Mol Med 2021 Jul;53(7):1192-1204. Epub 2021 Jul 28 doi: 10.1038/s12276-021-00653-4. PMID: 34316018Free PMC Article
AudioGene: predicting hearing loss genotypes from phenotypes to guide genetic screening.
Taylor KR, Deluca AP, Shearer AE, Hildebrand MS, Black-Ziegelbein EA, Anand VN, Sloan CM, Eppsteiner RW, Scheetz TE, Huygen PL, Smith RJ, Braun TA, Casavant TL
Hum Mutat 2013 Apr;34(4):539-45. Epub 2013 Feb 19 doi: 10.1002/humu.22268. PMID: 23280582Free PMC Article

Recent clinical studies

Etiology

A KCNQ4 c.546C>G Genetic Variant Associated with Late Onset Non-Syndromic Hearing Loss in a Taiwanese Population.
Yen TT, Chen IC, Hua MW, Wei CY, Shih KH, Li JL, Lin CH, Hsiao TH, Chen YM, Jiang RS
Genes (Basel) 2021 Oct 27;12(11) doi: 10.3390/genes12111711. PMID: 34828318Free PMC Article
Comprehensive genetic screening of KCNQ4 in a large autosomal dominant nonsyndromic hearing loss cohort: genotype-phenotype correlations and a founder mutation.
Naito T, Nishio SY, Iwasa Y, Yano T, Kumakawa K, Abe S, Ishikawa K, Kojima H, Namba A, Oshikawa C, Usami S
PLoS One 2013;8(5):e63231. Epub 2013 May 23 doi: 10.1371/journal.pone.0063231. PMID: 23717403Free PMC Article
A novel locus for autosomal dominant nonsyndromic hearing loss (DFNA44) maps to chromosome 3q28-29.
Modamio-Høybjør S, Moreno-Pelayo MA, Mencía A, del Castillo I, Chardenoux S, Armenta D, Lathrop M, Petit C, Moreno F
Hum Genet 2003 Jan;112(1):24-8. Epub 2002 Oct 16 doi: 10.1007/s00439-002-0836-x. PMID: 12483295

Diagnosis

COCH-related autosomal dominant nonsyndromic hearing loss: a phenotype-genotype study.
Oh KS, Walls D, Joo SY, Kim JA, Yoo JE, Koh YI, Kim DH, Rim JH, Choi HJ, Kim HY, Yu S, Smith RJ, Choi JY, Gee HY, Jung J
Hum Genet 2022 Apr;141(3-4):889-901. Epub 2021 Sep 16 doi: 10.1007/s00439-021-02368-y. PMID: 34529116Free PMC Article
A novel MYH14 mutation in a Chinese family with autosomal dominant nonsyndromic hearing loss.
Wang M, Zhou Y, Zhang F, Fan Z, Bai X, Wang H
BMC Med Genet 2020 Jul 25;21(1):154. doi: 10.1186/s12881-020-01086-y. PMID: 32711451Free PMC Article
Four Novel Variants in POU4F3 Cause Autosomal Dominant Nonsyndromic Hearing Loss.
Cui TY, Gao X, Huang SS, Sun YY, Zhang SQ, Jiang XX, Yang YZ, Kang DY, Zhu QW, Yuan YY
Neural Plast 2020;2020:6137083. Epub 2020 Jul 1 doi: 10.1155/2020/6137083. PMID: 32684921Free PMC Article
The p.R206C Mutation in MYO7A Leads to Autosomal Dominant Nonsyndromic Hearing Loss.
Lu J, Chen P, Chen T, Li L, Fu X, Yang T, Wu H
ORL J Otorhinolaryngol Relat Spec 2020;82(4):181-187. Epub 2020 May 19 doi: 10.1159/000506208. PMID: 32428919
Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss.
Morgan A, Koboldt DC, Barrie ES, Crist ER, García García G, Mezzavilla M, Faletra F, Mihalic Mosher T, Wilson RK, Blanchet C, Manickam K, Roux AF, Gasparini P, Dell'Orco D, Girotto G
Hum Mutat 2019 Dec;40(12):2286-2295. Epub 2019 Oct 1 doi: 10.1002/humu.23891. PMID: 31397523

Therapy

Effects of human deafness gamma-actin mutations (DFNA20/26) on actin function.
Bryan KE, Wen KK, Zhu M, Rendtorff ND, Feldkamp M, Tranebjaerg L, Friderici KH, Rubenstein PA
J Biol Chem 2006 Jul 21;281(29):20129-39. Epub 2006 May 10 doi: 10.1074/jbc.M601514200. PMID: 16690605

Prognosis

Investigation of a novel TBC1D24 variation causing autosomal dominant non-syndromic hearing loss.
Lei P, Zhu Q, Dong W
Sci Rep 2024 Feb 27;14(1):4734. doi: 10.1038/s41598-024-55435-5. PMID: 38413761Free PMC Article
WFS1 autosomal dominant variants linked with hearing loss: update on structural analysis and cochlear implant outcome.
Lim HD, Lee SM, Yun YJ, Lee DH, Lee JH, Oh SH, Lee SY
BMC Med Genomics 2023 Apr 11;16(1):79. doi: 10.1186/s12920-023-01506-x. PMID: 37041640Free PMC Article
A Missense POU4F3 Variant Associated with Autosomal Dominant Midfrequency Hearing Loss Alters Subnuclear Localization and Transcriptional Capabilities.
Bai D, Zhang X, Li Y, Ni J, Lan K
Biomed Res Int 2021;2021:5574136. Epub 2021 Jun 21 doi: 10.1155/2021/5574136. PMID: 34250087Free PMC Article
Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss.
Booth KT, Ghaffar A, Rashid M, Hovey LT, Hussain M, Frees K, Renkes EM, Nishimura CJ, Shahzad M, Smith RJ, Ahmed Z, Azaiez H, Riazuddin S
Hum Genet 2020 Dec;139(12):1565-1574. Epub 2020 Jun 19 doi: 10.1007/s00439-020-02197-5. PMID: 32562050Free PMC Article
TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss.
Azaiez H, Booth KT, Bu F, Huygen P, Shibata SB, Shearer AE, Kolbe D, Meyer N, Black-Ziegelbein EA, Smith RJ
Hum Mutat 2014 Jul;35(7):819-23. Epub 2014 May 6 doi: 10.1002/humu.22557. PMID: 24729539Free PMC Article

Clinical prediction guides

Investigation of a novel TBC1D24 variation causing autosomal dominant non-syndromic hearing loss.
Lei P, Zhu Q, Dong W
Sci Rep 2024 Feb 27;14(1):4734. doi: 10.1038/s41598-024-55435-5. PMID: 38413761Free PMC Article
WFS1 autosomal dominant variants linked with hearing loss: update on structural analysis and cochlear implant outcome.
Lim HD, Lee SM, Yun YJ, Lee DH, Lee JH, Oh SH, Lee SY
BMC Med Genomics 2023 Apr 11;16(1):79. doi: 10.1186/s12920-023-01506-x. PMID: 37041640Free PMC Article
COCH-related autosomal dominant nonsyndromic hearing loss: a phenotype-genotype study.
Oh KS, Walls D, Joo SY, Kim JA, Yoo JE, Koh YI, Kim DH, Rim JH, Choi HJ, Kim HY, Yu S, Smith RJ, Choi JY, Gee HY, Jung J
Hum Genet 2022 Apr;141(3-4):889-901. Epub 2021 Sep 16 doi: 10.1007/s00439-021-02368-y. PMID: 34529116Free PMC Article
Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss.
Booth KT, Ghaffar A, Rashid M, Hovey LT, Hussain M, Frees K, Renkes EM, Nishimura CJ, Shahzad M, Smith RJ, Ahmed Z, Azaiez H, Riazuddin S
Hum Genet 2020 Dec;139(12):1565-1574. Epub 2020 Jun 19 doi: 10.1007/s00439-020-02197-5. PMID: 32562050Free PMC Article
TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss.
Azaiez H, Booth KT, Bu F, Huygen P, Shibata SB, Shearer AE, Kolbe D, Meyer N, Black-Ziegelbein EA, Smith RJ
Hum Mutat 2014 Jul;35(7):819-23. Epub 2014 May 6 doi: 10.1002/humu.22557. PMID: 24729539Free PMC Article

Recent systematic reviews

WFS1 autosomal dominant variants linked with hearing loss: update on structural analysis and cochlear implant outcome.
Lim HD, Lee SM, Yun YJ, Lee DH, Lee JH, Oh SH, Lee SY
BMC Med Genomics 2023 Apr 11;16(1):79. doi: 10.1186/s12920-023-01506-x. PMID: 37041640Free PMC Article

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