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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

Etiology

Connexin 26 (GJB2) gene mutations linked with autosomal recessive non-syndromic sensor neural hearing loss in the Iraqi population.
Al-Janabi AM, Ahmmed HS, Al-Khafaji SM
J Med Life 2021 Nov-Dec;14(6):841-846. doi: 10.25122/jml-2021-0152. PMID: 35126756Free PMC Article
Novel variant in Sp7/Osx associated with recessive osteogenesis imperfecta with bone fragility and hearing impairment.
Fiscaletti M, Biggin A, Bennetts B, Wong K, Briody J, Pacey V, Birman C, Munns CF
Bone 2018 May;110:66-75. Epub 2018 Jan 31 doi: 10.1016/j.bone.2018.01.031. PMID: 29382611
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
Inherited renal diseases.
Leung JC
Curr Pediatr Rev 2014;10(2):95-100. doi: 10.2174/157339631002140513101755. PMID: 25088262
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

Diagnosis

A novel recessive PDZD7 bi-allelic mutation in an Iranian family with non-syndromic hearing loss.
Fahimi H, Behroozi S, Noavar S, Parvini F
BMC Med Genomics 2021 Feb 2;14(1):37. doi: 10.1186/s12920-021-00884-4. PMID: 33530996Free PMC Article
MEGDEL Syndrome.
Finsterer J, Scorza FA, Fiorini AC, Scorza CA
Pediatr Neurol 2020 Sep;110:25-29. Epub 2020 Jul 16 doi: 10.1016/j.pediatrneurol.2020.03.009. PMID: 32684373
Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran.
Sloan-Heggen CM, Babanejad M, Beheshtian M, Simpson AC, Booth KT, Ardalani F, Frees KL, Mohseni M, Mozafari R, Mehrjoo Z, Jamali L, Vaziri S, Akhtarkhavari T, Bazazzadegan N, Nikzat N, Arzhangi S, Sabbagh F, Otukesh H, Seifati SM, Khodaei H, Taghdiri M, Meyer NC, Daneshi A, Farhadi M, Kahrizi K, Smith RJ, Azaiez H, Najmabadi H
J Med Genet 2015 Dec;52(12):823-9. Epub 2015 Oct 7 doi: 10.1136/jmedgenet-2015-103389. PMID: 26445815Free 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
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

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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