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Hearing loss, autosomal dominant 86(DFNA86)

MedGen UID:
1840976
Concept ID:
C5830340
Disease or Syndrome
Synonym: Deafness, autosomal dominant 86
 
Gene (location): THOC1 (18p11.32)
 
Monarch Initiative: MONDO:0859524
OMIM®: 620280

Definition

Autosomal dominant deafness-86 (DFNA86) is characterized by late-onset progressive hearing loss through p53 (TP53; 191170)-mediated hair cell apoptosis (Zhang et al., 2020). [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.
Tinnitus
MedGen UID:
52760
Concept ID:
C0040264
Disease or Syndrome
Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation.
Abnormal vestibular function
MedGen UID:
334848
Concept ID:
C1843865
Finding
An abnormality of the functioning of the vestibular apparatus.
Abnormal inner ear morphology
MedGen UID:
868967
Concept ID:
C4023381
Anatomical Abnormality
A structural anomaly of the internal part of the ear.

Professional guidelines

PubMed

JanssensdeVarebeke SPF, Moyaert J, Fransen E, Bulen B, Neesen C, Devroye K, van de Berg R, Pennings RJE, Topsakal V, Vanderveken O, Van Camp G, Van Rompaey V
Ear Hear 2021 Nov-Dec 01;42(6):1508-1524. doi: 10.1097/AUD.0000000000001099. PMID: 34369416Free PMC Article
Stamou MI, Georgopoulos NA
Metabolism 2018 Sep;86:124-134. Epub 2017 Nov 3 doi: 10.1016/j.metabol.2017.10.012. PMID: 29108899Free PMC Article

Recent clinical studies

Etiology

Amudhavalli SM, Hanson R, Angle B, Bontempo K, Gripp KW
Am J Med Genet A 2018 Jul;176(7):1648-1656. doi: 10.1002/ajmg.a.38832. PMID: 30160832
Monteiro TA, Goffi-Gomez MV, Tsuji RK, Gomes MQ, Brito Neto RV, Bento RF
Braz J Otorhinolaryngol 2012 Oct;78(5):128-34. doi: 10.5935/1808-8694.20120020. PMID: 23108832Free PMC Article
Arweiler-Harbeck D, Horsthemke B, Jahnke K, Hennies HC
Otol Neurotol 2011 Jun;32(4):695-700. doi: 10.1097/MAO.0b013e318216074a. PMID: 21436747
Mazereeuw-Hautier J, Bitoun E, Chevrant-Breton J, Man SY, Bodemer C, Prins C, Antille C, Saurat JH, Atherton D, Harper JI, Kelsell DP, Hovnanian A
Br J Dermatol 2007 May;156(5):1015-9. Epub 2007 Mar 23 doi: 10.1111/j.1365-2133.2007.07806.x. PMID: 17381453

Diagnosis

de Muijnck C, Brink JBT, Bergen AA, Boon CJF, van Genderen MM
Surv Ophthalmol 2023 Jul-Aug;68(4):641-654. Epub 2023 Feb 9 doi: 10.1016/j.survophthal.2023.01.012. PMID: 36764396
Yang G, Yin Y, Tan Z, Liu J, Deng X, Yang Y
BMC Med Genomics 2021 Jan 21;14(1):24. doi: 10.1186/s12920-021-00871-9. PMID: 33478437Free PMC Article
Vicioni-Marques F, Meireles de Sousa SS, de Carvalho FK, de Oliveira SS, Paes Torres C, de Queiroz AM
J Dent Child (Chic) 2019 Jan 15;86(1):53-60. PMID: 30992102
Stamou MI, Georgopoulos NA
Metabolism 2018 Sep;86:124-134. Epub 2017 Nov 3 doi: 10.1016/j.metabol.2017.10.012. PMID: 29108899Free PMC Article
Arweiler-Harbeck D, Horsthemke B, Jahnke K, Hennies HC
Otol Neurotol 2011 Jun;32(4):695-700. doi: 10.1097/MAO.0b013e318216074a. PMID: 21436747

Therapy

Amudhavalli SM, Hanson R, Angle B, Bontempo K, Gripp KW
Am J Med Genet A 2018 Jul;176(7):1648-1656. doi: 10.1002/ajmg.a.38832. PMID: 30160832

Prognosis

JanssensdeVarebeke SPF, Moyaert J, Fransen E, Bulen B, Neesen C, Devroye K, van de Berg R, Pennings RJE, Topsakal V, Vanderveken O, Van Camp G, Van Rompaey V
Ear Hear 2021 Nov-Dec 01;42(6):1508-1524. doi: 10.1097/AUD.0000000000001099. PMID: 34369416Free PMC Article
Yang G, Yin Y, Tan Z, Liu J, Deng X, Yang Y
BMC Med Genomics 2021 Jan 21;14(1):24. doi: 10.1186/s12920-021-00871-9. PMID: 33478437Free PMC Article
Sun W, Xiao X, Li S, Jia X, Zhang Q
Ophthalmic Physiol Opt 2020 May;40(3):281-288. Epub 2020 Mar 20 doi: 10.1111/opo.12682. PMID: 32196734
Monteiro TA, Goffi-Gomez MV, Tsuji RK, Gomes MQ, Brito Neto RV, Bento RF
Braz J Otorhinolaryngol 2012 Oct;78(5):128-34. doi: 10.5935/1808-8694.20120020. PMID: 23108832Free PMC Article
Street VA, Kallman JC, Robertson NG, Kuo SF, Morton CC, Phillips JO
Am J Med Genet A 2005 Dec 1;139A(2):86-95. doi: 10.1002/ajmg.a.30980. PMID: 16261627

Clinical prediction guides

JanssensdeVarebeke SPF, Moyaert J, Fransen E, Bulen B, Neesen C, Devroye K, van de Berg R, Pennings RJE, Topsakal V, Vanderveken O, Van Camp G, Van Rompaey V
Ear Hear 2021 Nov-Dec 01;42(6):1508-1524. doi: 10.1097/AUD.0000000000001099. PMID: 34369416Free PMC Article
Yang G, Yin Y, Tan Z, Liu J, Deng X, Yang Y
BMC Med Genomics 2021 Jan 21;14(1):24. doi: 10.1186/s12920-021-00871-9. PMID: 33478437Free PMC Article
Sun W, Xiao X, Li S, Jia X, Zhang Q
Ophthalmic Physiol Opt 2020 May;40(3):281-288. Epub 2020 Mar 20 doi: 10.1111/opo.12682. PMID: 32196734
Baets J, Duan X, Wu Y, Smith G, Seeley WW, Mademan I, McGrath NM, Beadell NC, Khoury J, Botuyan MV, Mer G, Worrell GA, Hojo K, DeLeon J, Laura M, Liu YT, Senderek J, Weis J, Van den Bergh P, Merrill SL, Reilly MM, Houlden H, Grossman M, Scherer SS, De Jonghe P, Dyck PJ, Klein CJ
Brain 2015 Apr;138(Pt 4):845-61. Epub 2015 Feb 11 doi: 10.1093/brain/awv010. PMID: 25678562Free PMC Article
Arweiler-Harbeck D, Horsthemke B, Jahnke K, Hennies HC
Otol Neurotol 2011 Jun;32(4):695-700. doi: 10.1097/MAO.0b013e318216074a. PMID: 21436747

Recent systematic reviews

de Muijnck C, Brink JBT, Bergen AA, Boon CJF, van Genderen MM
Surv Ophthalmol 2023 Jul-Aug;68(4):641-654. Epub 2023 Feb 9 doi: 10.1016/j.survophthal.2023.01.012. PMID: 36764396

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