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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.
 
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

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
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
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

Therapy

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

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
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
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
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
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

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
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
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
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
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

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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