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Autosomal dominant nonsyndromic hearing loss 9(DFNA9)

MedGen UID:
371327
Concept ID:
C1832425
Disease or Syndrome
Synonyms: Deafness, autosomal dominant 9; DFNA 9 Nonsyndromic Hearing Loss and Deafness
 
Gene (location): COCH (14q12)
 
Monarch Initiative: MONDO:0011058
OMIM®: 601369

Definition

DFNA9 is an autosomal dominant adult-onset form of progressive sensorineural hearing loss associated with variable vestibular dysfunction (summary by Robertson et al., 2006). [from OMIM]

Clinical features

From HPO
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.
Vertigo
MedGen UID:
53006
Concept ID:
C0042571
Sign or Symptom
An abnormal sensation of spinning while the body is actually stationary.
Cochlear degeneration
MedGen UID:
338612
Concept ID:
C1849095
Finding
Deterioration or loss of the tissues of the cochlea.
Postlingual sensorineural hearing impairment
MedGen UID:
870217
Concept ID:
C4024654
Pathologic Function
A form of sensorineural hearing impairment with onset after the acquisition of speech.
Abnormality of the vestibulocochlear nerve
MedGen UID:
867073
Concept ID:
C4021431
Anatomical Abnormality
Any structural anomaly of the vestibulocochlear nerve. The vestibulocochlear nerve consists of the vestibular and cochlear nerves, also known as cranial nerve eight (CN VIII). Each nerve has distinct nuclei within the brainstem. The vestibular nerve is primarily responsible for maintaining body balance and eye movements, while the cochlear nerve is responsible for hearing.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Choi BY, Kim J, Chung J, Kim AR, Mun SJ, Kang SI, Lee SH, Kim N, Oh SH
PLoS One 2014;9(5):e97040. Epub 2014 May 9 doi: 10.1371/journal.pone.0097040. PMID: 24816743Free PMC Article

Recent clinical studies

Etiology

Tropitzsch A, Schade-Mann T, Gamerdinger P, Dofek S, Schulte B, Schulze M, Battke F, Fehr S, Biskup S, Heyd A, Müller M, Löwenheim H, Vona B, Holderried M
Ear Hear 2022 May/Jun;43(3):1049-1066. doi: 10.1097/AUD.0000000000001159. PMID: 34753855Free PMC Article
Hiramatsu K, Nishio SY, Kitajiri SI, Kitano T, Moteki H, Usami SI, On Behalf Of The Deafness Gene Study Consortium
Genes (Basel) 2021 Oct 15;12(10) doi: 10.3390/genes12101623. PMID: 34681017Free PMC Article
Kasakura-Kimura N, Masuda M, Mutai H, Masuda S, Morimoto N, Ogahara N, Misawa H, Sakamoto H, Saito K, Matsunaga T
Laryngoscope 2017 Sep;127(9):E324-E329. Epub 2017 Mar 8 doi: 10.1002/lary.26528. PMID: 28271504
Makishima T, Kurima K, Brewer CC, Griffith AJ
Otol Neurotol 2004 Sep;25(5):714-9. doi: 10.1097/00129492-200409000-00011. PMID: 15354000
Modamio-Høybjør S, Moreno-Pelayo MA, Mencía A, del Castillo I, Chardenoux S, Armenta D, Lathrop M, Petit C, Moreno F
Hum Genet 2003 Jan;112(1):24-8. Epub 2002 Oct 16 doi: 10.1007/s00439-002-0836-x. PMID: 12483295

Diagnosis

Tropitzsch A, Schade-Mann T, Gamerdinger P, Dofek S, Schulte B, Schulze M, Battke F, Fehr S, Biskup S, Heyd A, Müller M, Löwenheim H, Vona B, Holderried M
Ear Hear 2022 May/Jun;43(3):1049-1066. doi: 10.1097/AUD.0000000000001159. PMID: 34753855Free PMC Article
Hiramatsu K, Nishio SY, Kitajiri SI, Kitano T, Moteki H, Usami SI, On Behalf Of The Deafness Gene Study Consortium
Genes (Basel) 2021 Oct 15;12(10) doi: 10.3390/genes12101623. PMID: 34681017Free PMC Article
Van Heurck R, Carminho-Rodrigues MT, Ranza E, Stafuzza C, Quteineh L, Gehrig C, Hammar E, Guipponi M, Abramowicz M, Senn P, Guinand N, Cao-Van H, Paoloni-Giacobino A
Genes (Basel) 2021 Aug 20;12(8) doi: 10.3390/genes12081277. PMID: 34440452Free PMC Article
García-García G, Berzal-Serrano A, García-Díaz P, Villanova-Aparisi R, Juárez-Rodríguez S, de Paula-Vernetta C, Cavallé-Garrido L, Jaijo T, Armengot-Carceller M, Millán JM, Aller E
Genes (Basel) 2020 Dec 7;11(12) doi: 10.3390/genes11121467. PMID: 33297549Free PMC Article
Makishima T, Kurima K, Brewer CC, Griffith AJ
Otol Neurotol 2004 Sep;25(5):714-9. doi: 10.1097/00129492-200409000-00011. PMID: 15354000

Therapy

García-García G, Berzal-Serrano A, García-Díaz P, Villanova-Aparisi R, Juárez-Rodríguez S, de Paula-Vernetta C, Cavallé-Garrido L, Jaijo T, Armengot-Carceller M, Millán JM, Aller E
Genes (Basel) 2020 Dec 7;11(12) doi: 10.3390/genes11121467. PMID: 33297549Free PMC Article

Prognosis

Lim HD, Lee SM, Yun YJ, Lee DH, Lee JH, Oh SH, Lee SY
BMC Med Genomics 2023 Apr 11;16(1):79. doi: 10.1186/s12920-023-01506-x. PMID: 37041640Free PMC Article
Cesca F, Bettella E, Polli R, Cama E, Scimemi P, Santarelli R, Murgia A
Int J Pediatr Otorhinolaryngol 2018 Jan;104:88-93. Epub 2017 Oct 31 doi: 10.1016/j.ijporl.2017.10.042. PMID: 29287889
Sanggaard KM, Kjaer KW, Eiberg H, Nürnberg G, Nürnberg P, Hoffman K, Jensen H, Sørum C, Rendtorff ND, Tranebjaerg L
Am J Med Genet A 2008 Apr 15;146A(8):1017-25. doi: 10.1002/ajmg.a.32174. PMID: 18348273

Clinical prediction guides

Lim HD, Lee SM, Yun YJ, Lee DH, Lee JH, Oh SH, Lee SY
BMC Med Genomics 2023 Apr 11;16(1):79. doi: 10.1186/s12920-023-01506-x. PMID: 37041640Free PMC Article
Sanggaard KM, Kjaer KW, Eiberg H, Nürnberg G, Nürnberg P, Hoffman K, Jensen H, Sørum C, Rendtorff ND, Tranebjaerg L
Am J Med Genet A 2008 Apr 15;146A(8):1017-25. doi: 10.1002/ajmg.a.32174. PMID: 18348273
Modamio-Høybjør S, Moreno-Pelayo MA, Mencía A, del Castillo I, Chardenoux S, Armenta D, Lathrop M, Petit C, Moreno F
Hum Genet 2003 Jan;112(1):24-8. Epub 2002 Oct 16 doi: 10.1007/s00439-002-0836-x. PMID: 12483295
Salam AA, Häfner FM, Linder TE, Spillmann T, Schinzel AA, Leal SM
Am J Hum Genet 2000 Jun;66(6):1984-8. Epub 2000 Apr 24 doi: 10.1086/302931. PMID: 10777717Free PMC Article
Häfner FM, Salam AA, Linder TE, Balmer D, Baumer A, Schinzel AA, Spillmann T, Leal SM
Am J Hum Genet 2000 Apr;66(4):1437-42. Epub 2000 Mar 17 doi: 10.1086/302865. PMID: 10739769Free PMC Article

Recent systematic reviews

Lim HD, Lee SM, Yun YJ, Lee DH, Lee JH, Oh SH, Lee SY
BMC Med Genomics 2023 Apr 11;16(1):79. doi: 10.1186/s12920-023-01506-x. PMID: 37041640Free PMC Article

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