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Autosomal recessive nonsyndromic hearing loss 102(DFNB102)

MedGen UID:
856149
•Concept ID:
C3892050
•
Disease or Syndrome
Synonym: Deafness, autosomal recessive 102
 
Gene (location): EPS8 (12p12.3)
 
Monarch Initiative: MONDO:0014428
OMIM®: 615974

Definition

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the EPS8 gene. [from MONDO]

Clinical features

From HPO
Profound hearing impairment
MedGen UID:
868362
•Concept ID:
C4022756
•
Disease or Syndrome
A profound (essentially complete) form of hearing impairment.
See: Feature record | Search on this feature

Recent clinical studies

Etiology

Deep analysis of the LRTOMTc.242G>A variant in non-syndromic hearing loss North African patients and the Berber population: Implications for genetic diagnosis and genealogical studies.
Mosrati MA, Fadhlaoui-Zid K, Benammar-Elgaaied A, Gibriel AA, Ben Said M, Masmoudi S
Mol Genet Genomic Med 2021 Oct;9(10):e1810. Epub 2021 Sep 13 doi: 10.1002/mgg3.1810. PMID: 34514748Free PMC Article

Diagnosis

Deep analysis of the LRTOMTc.242G>A variant in non-syndromic hearing loss North African patients and the Berber population: Implications for genetic diagnosis and genealogical studies.
Mosrati MA, Fadhlaoui-Zid K, Benammar-Elgaaied A, Gibriel AA, Ben Said M, Masmoudi S
Mol Genet Genomic Med 2021 Oct;9(10):e1810. Epub 2021 Sep 13 doi: 10.1002/mgg3.1810. PMID: 34514748Free PMC Article
Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss.
Atik T, Onay H, Aykut A, Bademci G, Kirazli T, Tekin M, Ozkinay F
PLoS One 2015;10(11):e0142154. Epub 2015 Nov 11 doi: 10.1371/journal.pone.0142154. PMID: 26561413Free PMC Article

Supplemental Content

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    Clinical resources

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    Related information

    • ClinVar
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    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • 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)
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