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Autosomal recessive nonsyndromic hearing loss 93(DFNB93)

MedGen UID:
854875
•Concept ID:
C3888355
•
Disease or Syndrome
Synonym: Deafness, autosomal recessive 93
 
Gene (location): CABP2 (11q13.2)
 
Monarch Initiative: MONDO:0013963
OMIM®: 614899

Definition

Autosomal recessive deafness-93 is characterized by moderate to severe prelingual deafness and a distinctive U-shaped audiogram (Tabatabaiefar et al., 2011). [from OMIM]

Clinical features

From HPO
Hearing impairment
MedGen UID:
235586
•Concept ID:
C1384666
•
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
See: Feature record | Search on this feature

Recent clinical studies

Etiology

Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.
Shearer AE, Eppsteiner RW, Booth KT, Ephraim SS, Gurrola J 2nd, Simpson A, Black-Ziegelbein EA, Joshi S, Ravi H, Giuffre AC, Happe S, Hildebrand MS, Azaiez H, Bayazit YA, Erdal ME, Lopez-Escamez JA, Gazquez I, Tamayo ML, Gelvez NY, Leal GL, Jalas C, Ekstein J, Yang T, Usami S, Kahrizi K, Bazazzadegan N, Najmabadi H, Scheetz TE, Braun TA, Casavant TL, LeProust EM, Smith RJ
Am J Hum Genet 2014 Oct 2;95(4):445-53. Epub 2014 Sep 25 doi: 10.1016/j.ajhg.2014.09.001. PMID: 25262649Free PMC Article
Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general Gypsy population and individual subisolates.
Bouwer S, Angelicheva D, Chandler D, Seeman P, Tournev I, Kalaydjieva L
Genet Test 2007 Winter;11(4):455-8. doi: 10.1089/gte.2007.0048. PMID: 18294064

Diagnosis

Targeted Mutation Analysis of the SLC26A4, MYO6, PJVK and CDH23 Genes in Iranian Patients with AR Nonsyndromic Hearing Loss.
Alimardani M, Hosseini SM, Khaniani MS, Haghi MR, Eslahi A, Farjami M, Chezgi J, Derakhshan SM, Mojarrad M
Fetal Pediatr Pathol 2019 Apr;38(2):93-102. Epub 2018 Dec 23 doi: 10.1080/15513815.2018.1547336. PMID: 30582396
Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general Gypsy population and individual subisolates.
Bouwer S, Angelicheva D, Chandler D, Seeman P, Tournev I, Kalaydjieva L
Genet Test 2007 Winter;11(4):455-8. doi: 10.1089/gte.2007.0048. PMID: 18294064

Prognosis

Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss.
Diaz-Horta O, Duman D, Foster J 2nd, Sırmacı A, Gonzalez M, Mahdieh N, Fotouhi N, Bonyadi M, Cengiz FB, Menendez I, Ulloa RH, Edwards YJ, Züchner S, Blanton S, Tekin M
PLoS One 2012;7(11):e50628. Epub 2012 Nov 30 doi: 10.1371/journal.pone.0050628. PMID: 23226338Free PMC Article

Clinical prediction guides

Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss.
Diaz-Horta O, Duman D, Foster J 2nd, Sırmacı A, Gonzalez M, Mahdieh N, Fotouhi N, Bonyadi M, Cengiz FB, Menendez I, Ulloa RH, Edwards YJ, Züchner S, Blanton S, Tekin M
PLoS One 2012;7(11):e50628. Epub 2012 Nov 30 doi: 10.1371/journal.pone.0050628. PMID: 23226338Free PMC Article

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
    • 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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