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Autosomal recessive nonsyndromic hearing loss 98(DFNB98)

MedGen UID:
766846
•Concept ID:
C3553932
•
Disease or Syndrome
Synonym: Deafness, autosomal recessive 98
 
Gene (location): TSPEAR (21q22.3)
 
Monarch Initiative: MONDO:0013929
OMIM®: 614861

Definition

This form of autosomal recessive nonsyndromic deafness is sensorineural and shows prelingual onset (Delmaghani et al., 2012). [from OMIM]

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

Recent clinical studies

Etiology

Residual Hearing in DFNB1 Deafness and Its Clinical Implication in a Korean Population.
Kim SY, Kim AR, Han KH, Kim MY, Jeon EH, Koo JW, Oh SH, Choi BY
PLoS One 2015;10(6):e0125416. Epub 2015 Jun 10 doi: 10.1371/journal.pone.0125416. PMID: 26061264Free PMC Article

Diagnosis

Case report: Novel GJB2 variant c.113T>C associated with autosomal recessive non-syndromic hearing loss (ARNSHL) in a Han family.
Lan X, Sun S, Lan X, Niu L, Zhang C, Chen X, Xia N
Medicine (Baltimore) 2019 Dec;98(50):e18253. doi: 10.1097/MD.0000000000018253. PMID: 31852093Free PMC Article

Prognosis

Residual Hearing in DFNB1 Deafness and Its Clinical Implication in a Korean Population.
Kim SY, Kim AR, Han KH, Kim MY, Jeon EH, Koo JW, Oh SH, Choi BY
PLoS One 2015;10(6):e0125416. Epub 2015 Jun 10 doi: 10.1371/journal.pone.0125416. PMID: 26061264Free PMC Article
A p.C343S missense mutation in PJVK causes progressive hearing loss.
Mujtaba G, Bukhari I, Fatima A, Naz S
Gene 2012 Aug 1;504(1):98-101. Epub 2012 May 14 doi: 10.1016/j.gene.2012.05.013. PMID: 22617256Free PMC Article

Clinical prediction guides

Residual Hearing in DFNB1 Deafness and Its Clinical Implication in a Korean Population.
Kim SY, Kim AR, Han KH, Kim MY, Jeon EH, Koo JW, Oh SH, Choi BY
PLoS One 2015;10(6):e0125416. Epub 2015 Jun 10 doi: 10.1371/journal.pone.0125416. PMID: 26061264Free PMC Article
Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3.
Khan SY, Riazuddin S, Tariq M, Anwar S, Shabbir MI, Riazuddin SA, Khan SN, Husnain T, Ahmed ZM, Friedman TB, Riazuddin S
Hum Genet 2007 Feb;120(6):789-93. Epub 2006 Oct 26 doi: 10.1007/s00439-006-0275-1. PMID: 17066295

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
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PubMed
      Related literature resources in PubMed

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