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Autosomal dominant nonsyndromic hearing loss 30(DFNA30)

MedGen UID:
341116
•Concept ID:
C1847972
•
Disease or Syndrome
Synonym: Deafness, autosomal dominant 30
 
Monarch Initiative: MONDO:0011673
OMIM®: 606451

Definition

An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 15q25-q26. [from MONDO]

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  

Recent clinical studies

Diagnosis

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
Single gene variants causing deafness in Asian Indians.
Panigrahi I, Kumari D, Anil Kumar BN
J Genet 2021;100 PMID: 34238775
Mitochondrial disorders.
Zeviani M, Tiranti V, Piantadosi C
Medicine (Baltimore) 1998 Jan;77(1):59-72. doi: 10.1097/00005792-199801000-00006. PMID: 9465864
Inherited nonsyndromic hearing loss. An audiovestibular study in a large family with autosomal dominant progressive hearing loss related to DFNA2.
Marres H, van Ewijk M, Huygen P, Kunst H, van Camp G, Coucke P, Willems P, Cremers C
Arch Otolaryngol Head Neck Surg 1997 Jun;123(6):573-7. doi: 10.1001/archotol.1997.01900060015002. PMID: 9193215

Prognosis

Reclassification of a TMC1 synonymous substitution as a variant disrupting splicing regulatory elements associated with recessive hearing loss.
Vaché C, Baux D, Bianchi J, Baudoin C, Faugère V, Francannet C, Koenig M, Kalatzis V, Roux AF
Eur J Hum Genet 2022 Jan;30(1):34-41. Epub 2021 Dec 3 doi: 10.1038/s41431-021-01010-9. PMID: 34857896Free PMC Article

Clinical prediction guides

Reclassification of a TMC1 synonymous substitution as a variant disrupting splicing regulatory elements associated with recessive hearing loss.
Vaché C, Baux D, Bianchi J, Baudoin C, Faugère V, Francannet C, Koenig M, Kalatzis V, Roux AF
Eur J Hum Genet 2022 Jan;30(1):34-41. Epub 2021 Dec 3 doi: 10.1038/s41431-021-01010-9. PMID: 34857896Free PMC Article
A novel locus (DFNA23) for prelingual autosomal dominant nonsyndromic hearing loss maps to 14q21-q22 in a Swiss German kindred.
Salam AA, Häfner FM, Linder TE, Spillmann T, Schinzel AA, Leal SM
Am J Hum Genet 2000 Jun;66(6):1984-8. Epub 2000 Apr 24 doi: 10.1086/302931. PMID: 10777717Free PMC Article
A novel locus (DFNA24) for prelingual nonprogressive autosomal dominant nonsyndromic hearing loss maps to 4q35-qter in a large Swiss German kindred.
Häfner FM, Salam AA, Linder TE, Balmer D, Baumer A, Schinzel AA, Spillmann T, Leal SM
Am J Hum Genet 2000 Apr;66(4):1437-42. Epub 2000 Mar 17 doi: 10.1086/302865. PMID: 10739769Free PMC Article
Inherited nonsyndromic hearing loss. An audiovestibular study in a large family with autosomal dominant progressive hearing loss related to DFNA2.
Marres H, van Ewijk M, Huygen P, Kunst H, van Camp G, Coucke P, Willems P, Cremers C
Arch Otolaryngol Head Neck Surg 1997 Jun;123(6):573-7. doi: 10.1001/archotol.1997.01900060015002. PMID: 9193215

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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