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Hearing loss, autosomal dominant 80(DFNA80)

MedGen UID:
1779667
•Concept ID:
C5543289
•
Disease or Syndrome
Synonym: Deafness, autosomal dominant 80
 
Gene (location): GREB1L (18q11.1-11.2)
 
Monarch Initiative: MONDO:0030998
OMIM®: 619274

Definition

DFNA80 is characterized by nonsyndromic congenital deafness associated with absent or malformed cochleae and eighth cranial nerves (Schrauwen et al., 2018; Schrauwen et al., 2020). [from OMIM]

Clinical features

From HPO
Congenital sensorineural hearing impairment
MedGen UID:
356101
•Concept ID:
C1865866
•
Disease or Syndrome
A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset.
See: Feature record | Search on this feature
Abnormal semicircular canal morphology
MedGen UID:
868972
•Concept ID:
C4023386
•
Anatomical Abnormality
An abnormality of the morphology of the semicircular canal.
See: Feature record | Search on this feature
Dilated vestibule of the inner ear
MedGen UID:
868973
•Concept ID:
C4023387
•
Anatomical Abnormality
Dilatation of the vestibule of the inner ear.
See: Feature record | Search on this feature
Cochlear aplasia
MedGen UID:
868976
•Concept ID:
C4023390
•
Finding
Absence of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect.
See: Feature record | Search on this feature
Cochlear nerve aplasia
MedGen UID:
1054029
•Concept ID:
CN378340
•
Finding
A developmental defect causing an absence of the cochlear nerve resulting in sensorineural hearing loss.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Genotype-phenotype correlations for COL4A3-COL4A5 variants resulting in Gly substitutions in Alport syndrome.
Gibson JT, Huang M, Shenelli Croos Dabrera M, Shukla K, Rothe H, Hilbert P, Deltas C, Storey H, Lipska-Ziętkiewicz BS, Chan MMY, Sadeghi-Alavijeh O, Gale DP; Genomics England Research Consortium, Cerkauskaite A, Savige J
Sci Rep 2022 Feb 17;12(1):2722. doi: 10.1038/s41598-022-06525-9. PMID: 35177655Free PMC Article
Genotype-phenotype correlation for DFNA22: characterization of non-syndromic, autosomal dominant, progressive sensorineural hearing loss due to MYO6 mutations.
Topsakal V, Hilgert N, van Dinther J, Tranebjaerg L, Rendtorff ND, Zarowski A, Offeciers E, Van Camp G, van de Heyning P
Audiol Neurootol 2010;15(4):211-20. Epub 2009 Nov 5 doi: 10.1159/000255339. PMID: 19893302
Non-syndromic dominant sensorineural hearing loss: from a few phenotypes to many genotypes.
Stinckens C, Ensink R, Feenstra L, Fryns JP, Cremers C
Int J Pediatr Otorhinolaryngol 1997 Jan 3;38(3):237-45. doi: 10.1016/s0165-5876(96)01444-9. PMID: 9051428

Recent clinical studies

Etiology

Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study.
Furlano M, Martínez V, Pybus M, Arce Y, Crespí J, Venegas MDP, Bullich G, Domingo A, Ayasreh N, Benito S, Lorente L, Ruíz P, Gonzalez VL, Arlandis R, Cabello E, Torres F, Guirado L, Ars E, Torra R
Am J Kidney Dis 2021 Oct;78(4):560-570.e1. Epub 2021 Apr 7 doi: 10.1053/j.ajkd.2021.02.326. PMID: 33838161
Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.
Colombo L, Maltese PE, Castori M, El Shamieh S, Zeitz C, Audo I, Zulian A, Marinelli C, Benedetti S, Costantini A, Bressan S, Percio M, Ferri P, Abeshi A, Bertelli M, Rossetti L
Invest Ophthalmol Vis Sci 2021 Feb 1;62(2):13. doi: 10.1167/iovs.62.2.13. PMID: 33576794Free PMC Article
The Prevalence and Clinical Characteristics of TECTA-Associated Autosomal Dominant Hearing Loss.
Yasukawa R, Moteki H, Nishio SY, Ishikawa K, Abe S, Honkura Y, Hyogo M, Mihashi R, Ikezono T, Shintani T, Ogasawara N, Shirai K, Yoshihashi H, Ishino T, Otsuki K, Ito T, Sugahara K, Usami SI
Genes (Basel) 2019 Sep 24;10(10) doi: 10.3390/genes10100744. PMID: 31554319Free PMC Article
Language Development, Hearing Loss, and Intracranial Hypertension in Children With TWIST1-Confirmed Saethre-Chotzen Syndrome.
Kilcoyne S, Luscombe C, Scully P, Jayamohan J, Magdum S, Wall S, Johnson D, Wilkie AOM
J Craniofac Surg 2019 Jul;30(5):1506-1511. doi: 10.1097/SCS.0000000000005241. PMID: 31299755
Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome.
Kamiyoshi N, Nozu K, Fu XJ, Morisada N, Nozu Y, Ye MJ, Imafuku A, Miura K, Yamamura T, Minamikawa S, Shono A, Ninchoji T, Morioka I, Nakanishi K, Yoshikawa N, Kaito H, Iijima K
Clin J Am Soc Nephrol 2016 Aug 8;11(8):1441-1449. Epub 2016 Jun 8 doi: 10.2215/CJN.01000116. PMID: 27281700Free PMC Article

Diagnosis

Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study.
Furlano M, Martínez V, Pybus M, Arce Y, Crespí J, Venegas MDP, Bullich G, Domingo A, Ayasreh N, Benito S, Lorente L, Ruíz P, Gonzalez VL, Arlandis R, Cabello E, Torres F, Guirado L, Ars E, Torra R
Am J Kidney Dis 2021 Oct;78(4):560-570.e1. Epub 2021 Apr 7 doi: 10.1053/j.ajkd.2021.02.326. PMID: 33838161
Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.
Colombo L, Maltese PE, Castori M, El Shamieh S, Zeitz C, Audo I, Zulian A, Marinelli C, Benedetti S, Costantini A, Bressan S, Percio M, Ferri P, Abeshi A, Bertelli M, Rossetti L
Invest Ophthalmol Vis Sci 2021 Feb 1;62(2):13. doi: 10.1167/iovs.62.2.13. PMID: 33576794Free PMC Article
Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients.
Koyanagi Y, Akiyama M, Nishiguchi KM, Momozawa Y, Kamatani Y, Takata S, Inai C, Iwasaki Y, Kumano M, Murakami Y, Omodaka K, Abe T, Komori S, Gao D, Hirakata T, Kurata K, Hosono K, Ueno S, Hotta Y, Murakami A, Terasaki H, Wada Y, Nakazawa T, Ishibashi T, Ikeda Y, Kubo M, Sonoda KH
J Med Genet 2019 Oct;56(10):662-670. Epub 2019 Jun 17 doi: 10.1136/jmedgenet-2018-105691. PMID: 31213501
Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome.
Kamiyoshi N, Nozu K, Fu XJ, Morisada N, Nozu Y, Ye MJ, Imafuku A, Miura K, Yamamura T, Minamikawa S, Shono A, Ninchoji T, Morioka I, Nakanishi K, Yoshikawa N, Kaito H, Iijima K
Clin J Am Soc Nephrol 2016 Aug 8;11(8):1441-1449. Epub 2016 Jun 8 doi: 10.2215/CJN.01000116. PMID: 27281700Free PMC Article
Non-syndromic, autosomal-recessive deafness.
Petersen MB, Willems PJ
Clin Genet 2006 May;69(5):371-92. doi: 10.1111/j.1399-0004.2006.00613.x. PMID: 16650073

Therapy

Missense Variant of Endoplasmic Reticulum Region of WFS1 Gene Causes Autosomal Dominant Hearing Loss without Syndromic Phenotype.
Li J, Xu H, Sun J, Tian Y, Liu D, Qin Y, Liu H, Li R, Neng L, Deng X, Xue B, Yu C, Tang W
Biomed Res Int 2021;2021:6624744. Epub 2021 Mar 4 doi: 10.1155/2021/6624744. PMID: 34258273Free PMC Article
Bradycardia with sevoflurane in siblings with Branchio-oto-renal syndrome.
Taylor MH, Wilton NC
Paediatr Anaesth 2007 Jan;17(1):80-3. doi: 10.1111/j.1460-9592.2006.02024.x. PMID: 17184439
Molecular aspects of Alport's syndrome.
Weber M, Netzer KO, Pullig O
Clin Investig 1992 Sep;70(9):809-15. doi: 10.1007/BF00180752. PMID: 1450636

Prognosis

Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.
Colombo L, Maltese PE, Castori M, El Shamieh S, Zeitz C, Audo I, Zulian A, Marinelli C, Benedetti S, Costantini A, Bressan S, Percio M, Ferri P, Abeshi A, Bertelli M, Rossetti L
Invest Ophthalmol Vis Sci 2021 Feb 1;62(2):13. doi: 10.1167/iovs.62.2.13. PMID: 33576794Free PMC Article
Diagnosis, Intervention, and Prevention of Genetic Hearing Loss.
Yang T, Guo L, Wang L, Yu X
Adv Exp Med Biol 2019;1130:73-92. doi: 10.1007/978-981-13-6123-4_5. PMID: 30915702
Autosomal dominant progressive sensorineural hearing loss due to a novel mutation in the KCNQ4 gene.
Arnett J, Emery SB, Kim TB, Boerst AK, Lee K, Leal SM, Lesperance MM
Arch Otolaryngol Head Neck Surg 2011 Jan;137(1):54-9. doi: 10.1001/archoto.2010.234. PMID: 21242547Free PMC Article
Nonsyndromal profound genetic deafness in childhood.
Cremers CW, Marres HA, van Rijn PM
Ann N Y Acad Sci 1991;630:191-6. doi: 10.1111/j.1749-6632.1991.tb19587.x. PMID: 1952589
Estimation of prognosis and prevalence of retinitis pigmentosa and Usher syndrome in Norway.
Grøndahl J
Clin Genet 1987 Apr;31(4):255-64. doi: 10.1111/j.1399-0004.1987.tb02804.x. PMID: 3594933

Clinical prediction guides

Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study.
Furlano M, Martínez V, Pybus M, Arce Y, Crespí J, Venegas MDP, Bullich G, Domingo A, Ayasreh N, Benito S, Lorente L, Ruíz P, Gonzalez VL, Arlandis R, Cabello E, Torres F, Guirado L, Ars E, Torra R
Am J Kidney Dis 2021 Oct;78(4):560-570.e1. Epub 2021 Apr 7 doi: 10.1053/j.ajkd.2021.02.326. PMID: 33838161
The Prevalence and Clinical Characteristics of TECTA-Associated Autosomal Dominant Hearing Loss.
Yasukawa R, Moteki H, Nishio SY, Ishikawa K, Abe S, Honkura Y, Hyogo M, Mihashi R, Ikezono T, Shintani T, Ogasawara N, Shirai K, Yoshihashi H, Ishino T, Otsuki K, Ito T, Sugahara K, Usami SI
Genes (Basel) 2019 Sep 24;10(10) doi: 10.3390/genes10100744. PMID: 31554319Free PMC Article
Autosomal dominant progressive sensorineural hearing loss due to a novel mutation in the KCNQ4 gene.
Arnett J, Emery SB, Kim TB, Boerst AK, Lee K, Leal SM, Lesperance MM
Arch Otolaryngol Head Neck Surg 2011 Jan;137(1):54-9. doi: 10.1001/archoto.2010.234. PMID: 21242547Free PMC Article
Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1.
Hogewind BF, Pennings RJ, Hol FA, Kunst HP, Hoefsloot EH, Cruysberg JR, Cremers CW
Mol Vis 2010 Jan 12;16:26-35. PMID: 20069065Free PMC Article
Mapping of a new autosomal dominant non-syndromic hearing loss locus (DFNA43) to chromosome 2p12.
Flex E, Mangino M, Mazzoli M, Martini A, Migliosi V, Colosimo A, Mingarelli R, Pizzuti A, Dallapiccola B
J Med Genet 2003 Apr;40(4):278-81. doi: 10.1136/jmg.40.4.278. PMID: 12676899Free PMC Article

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      OMIM records containing genes associated with phenotypes registered in MedGen
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