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Hearing loss, autosomal dominant 84(DFNA84)

MedGen UID:
1801352
•Concept ID:
C5676952
•
Disease or Syndrome
Synonym: DEAFNESS, AUTOSOMAL DOMINANT 84
 
Gene (location): ATP11A (13q34)
 
Monarch Initiative: MONDO:0030724
OMIM®: 619810

Definition

Autosomal dominant deafness-84 (DFNA84) is characterized by slowly progressive nonsyndromic sensorineural hearing loss. Onset is usually in the postlingual period, during the first or second decades, although both congenital and later onset has been reported. There is intrafamilial variation in disease severity, audiogram shape, and progression (summary by Pater et al., 2022). [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

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

Recent clinical studies

Etiology

Comparing Clinical and Genetic Characteristics of De Novo and Inherited COL1A1/COL1A2 Variants in a Large Chinese Cohort of Osteogenesis Imperfecta.
Mei Y, Zhang H, Zhang Z
Front Endocrinol (Lausanne) 2022;13:935905. Epub 2022 Jul 14 doi: 10.3389/fendo.2022.935905. PMID: 35909573Free PMC Article
WFS1 in Optic Neuropathies: Mutation Findings in Nonsyndromic Optic Atrophy and Assessment of Clinical Severity.
Grenier J, Meunier I, Daien V, Baudoin C, Halloy F, Bocquet B, Blanchet C, Delettre C, Esmenjaud E, Roubertie A, Lenaers G, Hamel CP
Ophthalmology 2016 Sep;123(9):1989-98. Epub 2016 Jul 7 doi: 10.1016/j.ophtha.2016.05.036. PMID: 27395765
Familial clustering and genetic heterogeneity in Meniere's disease.
Requena T, Espinosa-Sanchez JM, Cabrera S, Trinidad G, Soto-Varela A, Santos-Perez S, Teggi R, Perez P, Batuecas-Caletrio A, Fraile J, Aran I, Martin E, Benitez J, Pérez-Fernández N, Lopez-Escamez JA
Clin Genet 2014 Mar;85(3):245-52. Epub 2013 Apr 9 doi: 10.1111/cge.12150. PMID: 23521103
Anticipation in a unique family with Charcot-Marie-Tooth syndrome and deafness: delineation of the clinical features and review of the literature.
Kovach MJ, Campbell KC, Herman K, Waggoner B, Gelber D, Hughes LF, Kimonis VE
Am J Med Genet 2002 Apr 1;108(4):295-303. doi: 10.1002/ajmg.10223. PMID: 11920834
Genetic counselling for handicapped school leavers.
Vowles M
J Med Genet 1981 Oct;18(5):350-8. doi: 10.1136/jmg.18.5.350. PMID: 6460103Free PMC Article

Diagnosis

Clinical Variability in a Family with Noonan Syndrome with a Homozygous PTPN11 Gene Variant in Two Individuals.
Yıldırım R, Unal E, Özalkak Ş, Akalın A, Aykut A, Yılmaz N
J Clin Res Pediatr Endocrinol 2024 Mar 11;16(1):76-83. Epub 2023 Oct 17 doi: 10.4274/jcrpe.galenos.2023.2023-5-16. PMID: 37847107Free PMC Article
WFS1 in Optic Neuropathies: Mutation Findings in Nonsyndromic Optic Atrophy and Assessment of Clinical Severity.
Grenier J, Meunier I, Daien V, Baudoin C, Halloy F, Bocquet B, Blanchet C, Delettre C, Esmenjaud E, Roubertie A, Lenaers G, Hamel CP
Ophthalmology 2016 Sep;123(9):1989-98. Epub 2016 Jul 7 doi: 10.1016/j.ophtha.2016.05.036. PMID: 27395765
Muenke syndrome: An international multicenter natural history study.
Kruszka P, Addissie YA, Yarnell CM, Hadley DW, Guillen Sacoto MJ, Platte P, Paelecke Y, Collmann H, Snow N, Schweitzer T, Boyadjiev SA, Aravidis C, Hall SE, Mulliken JB, Roscioli T, Muenke M
Am J Med Genet A 2016 Apr;170A(4):918-29. Epub 2016 Jan 6 doi: 10.1002/ajmg.a.37528. PMID: 26740388
Targeted high-throughput sequencing identifies pathogenic mutations in KCNQ4 in two large Chinese families with autosomal dominant hearing loss.
Wang H, Zhao Y, Yi Y, Gao Y, Liu Q, Wang D, Li Q, Lan L, Li N, Guan J, Yin Z, Han B, Zhao F, Zong L, Xiong W, Yu L, Song L, Yi X, Yang L, Petit C, Wang Q
PLoS One 2014;9(8):e103133. Epub 2014 Aug 12 doi: 10.1371/journal.pone.0103133. PMID: 25116015Free PMC Article
Familial clustering and genetic heterogeneity in Meniere's disease.
Requena T, Espinosa-Sanchez JM, Cabrera S, Trinidad G, Soto-Varela A, Santos-Perez S, Teggi R, Perez P, Batuecas-Caletrio A, Fraile J, Aran I, Martin E, Benitez J, Pérez-Fernández N, Lopez-Escamez JA
Clin Genet 2014 Mar;85(3):245-52. Epub 2013 Apr 9 doi: 10.1111/cge.12150. PMID: 23521103

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
Novel EYA4 variant in Slovak family with late onset autosomal dominant hearing loss: a case report.
Varga L, Danis D, Skopkova M, Masindova I, Slobodova Z, Demesova L, Profant M, Gasperikova D
BMC Med Genet 2019 May 17;20(1):84. doi: 10.1186/s12881-019-0806-y. PMID: 31101089Free PMC Article
Neurology of the cryopyrin-associated periodic fever syndrome.
Parker T, Keddie S, Kidd D, Lane T, Maviki M, Hawkins PN, Lachmann HJ, Ginsberg L
Eur J Neurol 2016 Jul;23(7):1145-51. Epub 2016 Mar 2 doi: 10.1111/ene.12965. PMID: 26931528
Anticipation in a unique family with Charcot-Marie-Tooth syndrome and deafness: delineation of the clinical features and review of the literature.
Kovach MJ, Campbell KC, Herman K, Waggoner B, Gelber D, Hughes LF, Kimonis VE
Am J Med Genet 2002 Apr 1;108(4):295-303. doi: 10.1002/ajmg.10223. PMID: 11920834

Clinical prediction guides

Comparing Clinical and Genetic Characteristics of De Novo and Inherited COL1A1/COL1A2 Variants in a Large Chinese Cohort of Osteogenesis Imperfecta.
Mei Y, Zhang H, Zhang Z
Front Endocrinol (Lausanne) 2022;13:935905. Epub 2022 Jul 14 doi: 10.3389/fendo.2022.935905. PMID: 35909573Free PMC Article
Novel EYA4 variant in Slovak family with late onset autosomal dominant hearing loss: a case report.
Varga L, Danis D, Skopkova M, Masindova I, Slobodova Z, Demesova L, Profant M, Gasperikova D
BMC Med Genet 2019 May 17;20(1):84. doi: 10.1186/s12881-019-0806-y. PMID: 31101089Free PMC Article
Familial clustering and genetic heterogeneity in Meniere's disease.
Requena T, Espinosa-Sanchez JM, Cabrera S, Trinidad G, Soto-Varela A, Santos-Perez S, Teggi R, Perez P, Batuecas-Caletrio A, Fraile J, Aran I, Martin E, Benitez J, Pérez-Fernández N, Lopez-Escamez JA
Clin Genet 2014 Mar;85(3):245-52. Epub 2013 Apr 9 doi: 10.1111/cge.12150. PMID: 23521103
A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16.
Carelli V, Schimpf S, Fuhrmann N, Valentino ML, Zanna C, Iommarini L, Papke M, Schaich S, Tippmann S, Baumann B, Barboni P, Longanesi L, Rugolo M, Ghelli A, Alavi MV, Youle RJ, Bucchi L, Carroccia R, Giannoccaro MP, Tonon C, Lodi R, Cenacchi G, Montagna P, Liguori R, Wissinger B
Hum Mol Genet 2011 May 15;20(10):1893-905. Epub 2011 Feb 24 doi: 10.1093/hmg/ddr071. PMID: 21349918
Anticipation in a unique family with Charcot-Marie-Tooth syndrome and deafness: delineation of the clinical features and review of the literature.
Kovach MJ, Campbell KC, Herman K, Waggoner B, Gelber D, Hughes LF, Kimonis VE
Am J Med Genet 2002 Apr 1;108(4):295-303. doi: 10.1002/ajmg.10223. PMID: 11920834

Recent systematic reviews

Hearing impairment in Stickler syndrome: a systematic review.
Acke FR, Dhooge IJ, Malfait F, De Leenheer EM
Orphanet J Rare Dis 2012 Oct 30;7:84. doi: 10.1186/1750-1172-7-84. PMID: 23110709Free PMC Article

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      Clinical tests in GTR
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      OMIM records containing genes associated with phenotypes registered in MedGen
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