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Autosomal dominant nonsyndromic hearing loss 21(DFNA21)

MedGen UID:
339643
•Concept ID:
C1846922
•
Disease or Syndrome
Synonym: Deafness, autosomal dominant 21
 
Gene (location): RIPOR2 (6p22.3)
 
Monarch Initiative: MONDO:0011761
OMIM®: 607017

Definition

Autosomal dominant deafness-21 (DFNA21) is characterized by nonsyndromic progressive sensorineural hearing loss. The mean age at onset is 30.6 years, with a range from infancy to late adulthood. There is a high prevalence of this genetic form of deafness in the Dutch population (summary by de Bruijn et al., 2021). [from OMIM]

Clinical features

From HPO
Sensorineural hearing loss disorder
MedGen UID:
9164
•Concept ID:
C0018784
•
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
See: Feature record | Search on this feature

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
Identification of pathogenic mechanisms of COCH mutations, abolished cochlin secretion, and intracellular aggregate formation: genotype-phenotype correlations in DFNA9 deafness and vestibular disorder.
Bae SH, Robertson NG, Cho HJ, Morton CC, Jung DJ, Baek JI, Choi SY, Lee J, Lee KY, Kim UK
Hum Mutat 2014 Dec;35(12):1506-1513. doi: 10.1002/humu.22701. PMID: 25230692Free PMC Article

Recent clinical studies

Etiology

Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study.
Tropitzsch A, Schade-Mann T, Gamerdinger P, Dofek S, Schulte B, Schulze M, Battke F, Fehr S, Biskup S, Heyd A, Müller M, Löwenheim H, Vona B, Holderried M
Ear Hear 2022 May/Jun;43(3):1049-1066. doi: 10.1097/AUD.0000000000001159. PMID: 34753855Free PMC Article
Nonsyndromic hearing loss: an analysis of audiograms.
Liu X, Xu L
Ann Otol Rhinol Laryngol 1994 Jun;103(6):428-33. doi: 10.1177/000348949410300602. PMID: 8203808

Diagnosis

Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study.
Tropitzsch A, Schade-Mann T, Gamerdinger P, Dofek S, Schulte B, Schulze M, Battke F, Fehr S, Biskup S, Heyd A, Müller M, Löwenheim H, Vona B, Holderried M
Ear Hear 2022 May/Jun;43(3):1049-1066. doi: 10.1097/AUD.0000000000001159. PMID: 34753855Free 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
Frequency and origin of the c.2090T>G p.(Leu697Trp) MYO3A variant associated with autosomal dominant hearing loss.
Bueno AS, Nunes K, Dias AMM, Alves LU, Mendes BCA, Sampaio-Silva J, Smits J, Yntema HG, Meyer D, Lezirovitz K, Mingroni-Netto RC
Eur J Hum Genet 2022 Jan;30(1):13-21. Epub 2021 May 6 doi: 10.1038/s41431-021-00891-0. PMID: 33953343Free 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
Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37.
Booth KT, Askew JW, Talebizadeh Z, Huygen PLM, Eudy J, Kenyon J, Hoover D, Hildebrand MS, Smith KR, Bahlo M, Kimberling WJ, Smith RJH, Azaiez H, Smith SD
Genet Med 2019 Apr;21(4):948-954. Epub 2018 Sep 24 doi: 10.1038/s41436-018-0285-0. PMID: 30245514Free PMC Article

Prognosis

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
Extrusion pump ABCC1 was first linked with nonsyndromic hearing loss in humans by stepwise genetic analysis.
Li M, Mei L, He C, Chen H, Cai X, Liu Y, Tian R, Tian Q, Song J, Jiang L, Liu C, Wu H, Li T, Liu J, Li X, Yi Y, Yan D, Blanton SH, Hu Z, Liu X, Li J, Ling J, Feng Y
Genet Med 2019 Dec;21(12):2744-2754. Epub 2019 Jul 5 doi: 10.1038/s41436-019-0594-y. PMID: 31273342
Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37.
Booth KT, Askew JW, Talebizadeh Z, Huygen PLM, Eudy J, Kenyon J, Hoover D, Hildebrand MS, Smith KR, Bahlo M, Kimberling WJ, Smith RJH, Azaiez H, Smith SD
Genet Med 2019 Apr;21(4):948-954. Epub 2018 Sep 24 doi: 10.1038/s41436-018-0285-0. PMID: 30245514Free PMC Article

Clinical prediction guides

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
Extrusion pump ABCC1 was first linked with nonsyndromic hearing loss in humans by stepwise genetic analysis.
Li M, Mei L, He C, Chen H, Cai X, Liu Y, Tian R, Tian Q, Song J, Jiang L, Liu C, Wu H, Li T, Liu J, Li X, Yi Y, Yan D, Blanton SH, Hu Z, Liu X, Li J, Ling J, Feng Y
Genet Med 2019 Dec;21(12):2744-2754. Epub 2019 Jul 5 doi: 10.1038/s41436-019-0594-y. PMID: 31273342
Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37.
Booth KT, Askew JW, Talebizadeh Z, Huygen PLM, Eudy J, Kenyon J, Hoover D, Hildebrand MS, Smith KR, Bahlo M, Kimberling WJ, Smith RJH, Azaiez H, Smith SD
Genet Med 2019 Apr;21(4):948-954. Epub 2018 Sep 24 doi: 10.1038/s41436-018-0285-0. PMID: 30245514Free PMC Article
Whole-exome sequencing identifies a novel genotype-phenotype correlation in the entactin domain of the known deafness gene TECTA.
Choi BY, Kim J, Chung J, Kim AR, Mun SJ, Kang SI, Lee SH, Kim N, Oh SH
PLoS One 2014;9(5):e97040. Epub 2014 May 9 doi: 10.1371/journal.pone.0097040. PMID: 24816743Free 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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    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
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      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
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      Related information in PubMed Central Links
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