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Autosomal dominant nonsyndromic hearing loss 16(DFNA16)

MedGen UID:
349054
•Concept ID:
C1858916
•
Disease or Syndrome
Synonym: Deafness, autosomal dominant 16
 
Monarch Initiative: MONDO:0011389
OMIM®: 603964

Definition

An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2q23-q24.3. [from MONDO]

Clinical features

From HPO
Tinnitus
MedGen UID:
52760
•Concept ID:
C0040264
•
Disease or Syndrome
Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation.
See: Feature record | Search on this feature
Adult onset sensorineural hearing impairment
MedGen UID:
867176
•Concept ID:
C4021534
•
Disease or Syndrome
The presence of sensorineural deafness with late onset.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

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
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
Prevalence and Clinical Characteristics of Hearing Loss Caused by MYH14 Variants.
Hiramatsu K, Nishio SY, Kitajiri SI, Kitano T, Moteki H, Usami SI, On Behalf Of The Deafness Gene Study Consortium
Genes (Basel) 2021 Oct 15;12(10) doi: 10.3390/genes12101623. PMID: 34681017Free PMC Article
GJB2 (Cx26) gene mutations in Chinese patients with congenital sensorineural deafness and a report of one novel mutation.
Xiao ZA, Xie DH
Chin Med J (Engl) 2004 Dec;117(12):1797-801. PMID: 15603707

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
Prevalence and Clinical Characteristics of Hearing Loss Caused by MYH14 Variants.
Hiramatsu K, Nishio SY, Kitajiri SI, Kitano T, Moteki H, Usami SI, On Behalf Of The Deafness Gene Study Consortium
Genes (Basel) 2021 Oct 15;12(10) doi: 10.3390/genes12101623. PMID: 34681017Free 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
A Missense Mutation in POU4F3 Causes Midfrequency Hearing Loss in a Chinese ADNSHL Family.
Gao X, Xu JC, Wang WQ, Yuan YY, Bai D, Huang SS, Wang GJ, Su Y, Li J, Kang DY, Zhang MG, Lin X, Dai P
Biomed Res Int 2018;2018:5370802. Epub 2018 Apr 4 doi: 10.1155/2018/5370802. PMID: 29850532Free PMC Article
Mutation in the Hair Cell Specific Gene POU4F3 Is a Common Cause for Autosomal Dominant Nonsyndromic Hearing Loss in Chinese Hans.
He L, Pang X, Chen P, Wu H, Yang T
Neural Plast 2016;2016:9890827. Epub 2016 Dec 8 doi: 10.1155/2016/9890827. PMID: 28053790Free 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
Human deafness-associated variants alter the dynamics of key molecules in hair cell stereocilia F-actin cores.
Miyoshi T, Belyantseva IA, Kitajiri SI, Miyajima H, Nishio SY, Usami SI, Kim BJ, Choi BY, Omori K, Shroff H, Friedman TB
Hum Genet 2022 Apr;141(3-4):363-382. Epub 2021 Jul 7 doi: 10.1007/s00439-021-02304-0. PMID: 34232383
A Novel Heterozygous Missense Variant (c.667G>T;p.Gly223Cys) in USH1C That Interferes With Cadherin-Related 23 and Harmonin Interaction Causes Autosomal Dominant Nonsyndromic Hearing Loss.
Song JS, Bahloul A, Petit C, Kim SJ, Moon IJ, Lee J, Ki CS
Ann Lab Med 2020 May;40(3):224-231. doi: 10.3343/alm.2020.40.3.224. PMID: 31858762Free 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
Human deafness-associated variants alter the dynamics of key molecules in hair cell stereocilia F-actin cores.
Miyoshi T, Belyantseva IA, Kitajiri SI, Miyajima H, Nishio SY, Usami SI, Kim BJ, Choi BY, Omori K, Shroff H, Friedman TB
Hum Genet 2022 Apr;141(3-4):363-382. Epub 2021 Jul 7 doi: 10.1007/s00439-021-02304-0. PMID: 34232383
A Novel Heterozygous Missense Variant (c.667G>T;p.Gly223Cys) in USH1C That Interferes With Cadherin-Related 23 and Harmonin Interaction Causes Autosomal Dominant Nonsyndromic Hearing Loss.
Song JS, Bahloul A, Petit C, Kim SJ, Moon IJ, Lee J, Ki CS
Ann Lab Med 2020 May;40(3):224-231. doi: 10.3343/alm.2020.40.3.224. PMID: 31858762Free 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

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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