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Autosomal recessive nonsyndromic hearing loss 44(DFNB44)

MedGen UID:
341854
•Concept ID:
C1857809
•
Disease or Syndrome
Synonym: Deafness, autosomal recessive 44
 
Gene (location): ADCY1 (7p12.3)
 
Monarch Initiative: MONDO:0012421
OMIM®: 610154

Definition

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ADCY1 gene. [from MONDO]

Clinical features

From HPO
Prelingual sensorineural hearing impairment
MedGen UID:
867432
•Concept ID:
C4021806
•
Disease or Syndrome
A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

GJB2 p.V37I Mutation Associated With Moderate Nonsyndromic Hearing Loss in an Adult Taiwanese Population.
Yen TT, Chen IC, Cho S, Chang TG, Shih KH, Hua MW, Li JL, Hsu CY, Hsiao TH, Chen YM
Ear Hear 2023 Nov-Dec 01;44(6):1423-1429. Epub 2023 Jun 5 doi: 10.1097/AUD.0000000000001384. PMID: 37271870
Mutation analysis of familial GJB2-related deafness in Iranian Azeri Turkish patients.
Bonyadi M, Esmaeili M, Abhari M, Lotfi A
Genet Test Mol Biomarkers 2009 Oct;13(5):689-92. doi: 10.1089/gtmb.2009.0026. PMID: 19715472

Diagnosis

Novel compound heterozygous synonymous and missense variants in the MYO7A gene identified by next-generation sequencing in a Chinese family with nonsyndromic hearing loss.
Xiang Y, Xu C, Xu Y, Zhou L, Tang S, Xu X
J Clin Lab Anal 2022 Nov;36(11):e24708. Epub 2022 Sep 26 doi: 10.1002/jcla.24708. PMID: 36164746Free PMC Article

Prognosis

Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.
Riazuddin S, Belyantseva IA, Giese AP, Lee K, Indzhykulian AA, Nandamuri SP, Yousaf R, Sinha GP, Lee S, Terrell D, Hegde RS, Ali RA, Anwar S, Andrade-Elizondo PB, Sirmaci A, Parise LV, Basit S, Wali A, Ayub M, Ansar M, Ahmad W, Khan SN, Akram J, Tekin M, Riazuddin S, Cook T, Buschbeck EK, Frolenkov GI, Leal SM, Friedman TB, Ahmed ZM
Nat Genet 2012 Nov;44(11):1265-71. Epub 2012 Sep 30 doi: 10.1038/ng.2426. PMID: 23023331Free PMC Article

Clinical prediction guides

Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.
Riazuddin S, Belyantseva IA, Giese AP, Lee K, Indzhykulian AA, Nandamuri SP, Yousaf R, Sinha GP, Lee S, Terrell D, Hegde RS, Ali RA, Anwar S, Andrade-Elizondo PB, Sirmaci A, Parise LV, Basit S, Wali A, Ayub M, Ansar M, Ahmad W, Khan SN, Akram J, Tekin M, Riazuddin S, Cook T, Buschbeck EK, Frolenkov GI, Leal SM, Friedman TB, Ahmed ZM
Nat Genet 2012 Nov;44(11):1265-71. Epub 2012 Sep 30 doi: 10.1038/ng.2426. PMID: 23023331Free PMC Article
A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1.
Ramzan K, Shaikh RS, Ahmad J, Khan SN, Riazuddin S, Ahmed ZM, Friedman TB, Wilcox ER, Riazuddin S
Hum Genet 2005 Jan;116(1-2):17-22. Epub 2004 Nov 6 doi: 10.1007/s00439-004-1205-8. PMID: 15538632

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • 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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