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Autosomal recessive nonsyndromic hearing loss 68(DFNB68)

MedGen UID:
324374
•Concept ID:
C1835854
•
Disease or Syndrome
Synonym: Deafness, autosomal recessive 68
 
Gene (location): S1PR2 (19p13.2)
 
Monarch Initiative: MONDO:0012485
OMIM®: 610419

Definition

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the S1PR2 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

Variations in the Mutational Spectrum in Nonsyndromic Hearing Impairment: A study of the Special Schools for the Deaf in Southern China.
Lin Y, Yu F, Jiao Y, Zhou F
J Int Adv Otol 2019 Aug;15(2):247-252. doi: 10.5152/iao.2019.6512. PMID: 31347505Free PMC Article

Prognosis

The third human FER-1-like protein is highly similar to dysferlin.
Britton S, Freeman T, Vafiadaki E, Keers S, Harrison R, Bushby K, Bashir R
Genomics 2000 Sep 15;68(3):313-21. doi: 10.1006/geno.2000.6290. PMID: 10995573

Clinical prediction guides

Variations in the Mutational Spectrum in Nonsyndromic Hearing Impairment: A study of the Special Schools for the Deaf in Southern China.
Lin Y, Yu F, Jiao Y, Zhou F
J Int Adv Otol 2019 Aug;15(2):247-252. doi: 10.5152/iao.2019.6512. PMID: 31347505Free 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
The third human FER-1-like protein is highly similar to dysferlin.
Britton S, Freeman T, Vafiadaki E, Keers S, Harrison R, Bushby K, Bashir R
Genomics 2000 Sep 15;68(3):313-21. doi: 10.1006/geno.2000.6290. PMID: 10995573

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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