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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.
See: Feature record | Search on this feature
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.
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
Abnormal inner ear morphology
MedGen UID:
868967
•Concept ID:
C4023381
•
Anatomical Abnormality
A structural anomaly of the internal part of the ear.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Genotype-phenotype Correlation Study in a Large Series of Patients Carrying the p.Pro51Ser (p.P51S) Variant in COCH (DFNA9): Part I-A Cross-sectional Study of Hearing Function in 111 Carriers.
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
Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism.
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

Further delineation of Aymé-Gripp syndrome and use of automated facial analysis tool.
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
Neurofibromatosis 2: hearing restoration options.
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
Genetic aspects of familial Ménière's disease.
Arweiler-Harbeck D, Horsthemke B, Jahnke K, Hennies HC
Otol Neurotol 2011 Jun;32(4):695-700. doi: 10.1097/MAO.0b013e318216074a. PMID: 21436747
Keratitis-ichthyosis-deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients.
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

Delineating Wolfram-like syndrome: A systematic review and discussion of the WFS1-associated disease spectrum.
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
Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.
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
Orodental Findings in Patients with Lacrimo-Auriculo-Dento-Digital Syndrome.
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
Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism.
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
Genetic aspects of familial Ménière's disease.
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

Further delineation of Aymé-Gripp syndrome and use of automated facial analysis tool.
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

Genotype-phenotype Correlation Study in a Large Series of Patients Carrying the p.Pro51Ser (p.P51S) Variant in COCH (DFNA9): Part I-A Cross-sectional Study of Hearing Function in 111 Carriers.
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
Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.
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
A novel deep intronic COL2A1 mutation in a family with early-onset high myopia/ocular-only Stickler syndrome.
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
Neurofibromatosis 2: hearing restoration options.
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
A novel DFNA9 mutation in the vWFA2 domain of COCH alters a conserved cysteine residue and intrachain disulfide bond formation resulting in progressive hearing loss and site-specific vestibular and central oculomotor dysfunction.
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

Genotype-phenotype Correlation Study in a Large Series of Patients Carrying the p.Pro51Ser (p.P51S) Variant in COCH (DFNA9): Part I-A Cross-sectional Study of Hearing Function in 111 Carriers.
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
Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.
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
A novel deep intronic COL2A1 mutation in a family with early-onset high myopia/ocular-only Stickler syndrome.
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
Defects of mutant DNMT1 are linked to a spectrum of neurological disorders.
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
Genetic aspects of familial Ménière's disease.
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

Delineating Wolfram-like syndrome: A systematic review and discussion of the WFS1-associated disease spectrum.
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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    • ClinVar
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      Related records in OMIM
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      OMIM records containing genes associated with phenotypes registered in MedGen
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