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Autosomal recessive nonsyndromic hearing loss 66(DFNB66)

MedGen UID:
346659
•Concept ID:
C1857750
•
Disease or Syndrome
Synonyms: Deafness, autosomal recessive 66; DFNB66
 
Gene (location): DCDC2 (6p22.3)
 
Monarch Initiative: MONDO:0012442
OMIM®: 610212

Definition

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the DCDC2 gene. [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

Etiology

Effect of GJB2 235delC and 30-35delG genetic polymorphisms on risk of congenital deafness in a Chinese population.
Xiong Y, Zhong M, Chen J, Yan YL, Lin XF, Li X
Genet Mol Res 2017 Feb 8;16(1) doi: 10.4238/gmr16019165. PMID: 28198501

Diagnosis

Unraveling the Diversity of GJB2 Mutations in Nonsyndromic Hearing Loss: A Comprehensive Study in the Moroccan Population.
El Fizazi K, Abbassi M, Nmer S, Laamarti H, ElAlami MN, Ouldim K, Bouguenouch L, Ridal M
Audiol Neurootol 2024;29(3):216-223. Epub 2024 Jan 22 doi: 10.1159/000535346. PMID: 38253033

Prognosis

Physical map of the region surrounding the OTOFERLIN locus on chromosome 2p22-p23.
Yasunaga S, Petit C
Genomics 2000 May 15;66(1):110-2. doi: 10.1006/geno.2000.6185. PMID: 10843812

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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