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Hearing loss, autosomal recessive 110(DFNB110)

MedGen UID:
1648377
•Concept ID:
C4748162
•
Disease or Syndrome
Synonym: Deafness, autosomal recessive 110
 
Gene (location): COCH (14q12)
 
Monarch Initiative: MONDO:0054860
OMIM®: 618094

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
Abnormal vestibular function
MedGen UID:
334848
•Concept ID:
C1843865
•
Finding
An abnormality of the functioning of the vestibular apparatus.
See: Feature record | Search on this feature

Recent clinical studies

Therapy

A phase I/IIa double blind single institute trial of low dose sirolimus for Pendred syndrome/DFNB4.
Fujioka M, Akiyama T, Hosoya M, Kikuchi K, Fujiki Y, Saito Y, Yoshihama K, Ozawa H, Tsukada K, Nishio SY, Usami SI, Matsunaga T, Hasegawa T, Sato Y, Ogawa K
Medicine (Baltimore) 2020 May;99(19):e19763. doi: 10.1097/MD.0000000000019763. PMID: 32384426Free PMC Article
Speech recognition and communication outcomes with cochlear implantation in Usher syndrome type 3.
Pietola L, Aarnisalo AA, Abdel-Rahman A, Västinsalo H, Isosomppi J, Löppönen H, Kentala E, Johansson R, Valtonen H, Vasama JP, Sankila EM, Jero J
Otol Neurotol 2012 Jan;33(1):38-41. doi: 10.1097/MAO.0b013e31823dbc56. PMID: 22143301

Prognosis

PDZD7 and hearing loss: More than just a modifier.
Booth KT, Azaiez H, Kahrizi K, Simpson AC, Tollefson WT, Sloan CM, Meyer NC, Babanejad M, Ardalani F, Arzhangi S, Schnieders MJ, Najmabadi H, Smith RJ
Am J Med Genet A 2015 Dec;167A(12):2957-65. Epub 2015 Sep 29 doi: 10.1002/ajmg.a.37274. PMID: 26416264Free PMC Article
Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.
Jiang L, Liang X, Li Y, Wang J, Zaneveld JE, Wang H, Xu S, Wang K, Wang B, Chen R, Sui R
Orphanet J Rare Dis 2015 Sep 4;10:110. doi: 10.1186/s13023-015-0329-3. PMID: 26338283Free PMC Article
Variations in the cochlear implant experience in children with enlarged vestibular aqueduct.
Pritchett C, Zwolan T, Huq F, Phillips A, Parmar H, Ibrahim M, Thorne M, Telian S
Laryngoscope 2015 Sep;125(9):2169-74. Epub 2015 Feb 3 doi: 10.1002/lary.25187. PMID: 25647353
Novel sequence variants in the TMIE gene in families with autosomal recessive nonsyndromic hearing impairment.
Santos RL, El-Shanti H, Sikandar S, Lee K, Bhatti A, Yan K, Chahrour MH, McArthur N, Pham TL, Mahasneh AA, Ahmad W, Leal SM
J Mol Med (Berl) 2006 Mar;84(3):226-31. Epub 2005 Dec 31 doi: 10.1007/s00109-005-0015-3. PMID: 16389551Free PMC Article
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

Clinical prediction guides

PDZD7 and hearing loss: More than just a modifier.
Booth KT, Azaiez H, Kahrizi K, Simpson AC, Tollefson WT, Sloan CM, Meyer NC, Babanejad M, Ardalani F, Arzhangi S, Schnieders MJ, Najmabadi H, Smith RJ
Am J Med Genet A 2015 Dec;167A(12):2957-65. Epub 2015 Sep 29 doi: 10.1002/ajmg.a.37274. PMID: 26416264Free PMC Article
Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.
Jiang L, Liang X, Li Y, Wang J, Zaneveld JE, Wang H, Xu S, Wang K, Wang B, Chen R, Sui R
Orphanet J Rare Dis 2015 Sep 4;10:110. doi: 10.1186/s13023-015-0329-3. PMID: 26338283Free PMC Article
Speech recognition and communication outcomes with cochlear implantation in Usher syndrome type 3.
Pietola L, Aarnisalo AA, Abdel-Rahman A, Västinsalo H, Isosomppi J, Löppönen H, Kentala E, Johansson R, Valtonen H, Vasama JP, Sankila EM, Jero J
Otol Neurotol 2012 Jan;33(1):38-41. doi: 10.1097/MAO.0b013e31823dbc56. PMID: 22143301
Novel sequence variants in the TMIE gene in families with autosomal recessive nonsyndromic hearing impairment.
Santos RL, El-Shanti H, Sikandar S, Lee K, Bhatti A, Yan K, Chahrour MH, McArthur N, Pham TL, Mahasneh AA, Ahmad W, Leal SM
J Mol Med (Berl) 2006 Mar;84(3):226-31. Epub 2005 Dec 31 doi: 10.1007/s00109-005-0015-3. PMID: 16389551Free PMC Article
Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.
Kelley PM, Harris DJ, Comer BC, Askew JW, Fowler T, Smith SD, Kimberling WJ
Am J Hum Genet 1998 Apr;62(4):792-9. doi: 10.1086/301807. PMID: 9529365Free PMC Article

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    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
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      Related literature resources in PubMed

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