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Hearing loss, autosomal dominant 77(DFNA77)

MedGen UID:
1709284
•Concept ID:
C5394499
•
Disease or Syndrome
Synonym: DEAFNESS, AUTOSOMAL DOMINANT 77
 
Gene (location): ABCC1 (16p13.11)
 
Monarch Initiative: MONDO:0030058
OMIM®: 618915

Definition

Autosomal dominant deafness-77 (DFNA77) is characterized by progressive hearing loss affecting high frequencies beginning in the second to third decades of life and affecting all frequencies by the fourth or fifth decades (Li et al., 2019). [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 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 and Phenotype Analyses of a Novel WFS1 Variant (c.2512C>T p.(Pro838Ser)) Associated with DFNA6/14/38.
Velde HM, Huizenga XJJ, Yntema HG, Haer-Wigman L, Beynon AJ, Oostrik J, Pegge SAH, Kremer H, Lanting CP, Pennings RJE
Genes (Basel) 2023 Feb 10;14(2) doi: 10.3390/genes14020457. PMID: 36833385Free PMC Article
Alport Syndrome: Achieving Early Diagnosis and Treatment.
Kashtan CE
Am J Kidney Dis 2021 Feb;77(2):272-279. Epub 2020 Jul 22 doi: 10.1053/j.ajkd.2020.03.026. PMID: 32712016
Waardenburg syndrome type II: phenotypic findings and diagnostic criteria.
Liu XZ, Newton VE, Read AP
Am J Med Genet 1995 Jan 2;55(1):95-100. doi: 10.1002/ajmg.1320550123. PMID: 7702105

Recent clinical studies

Etiology

Fetal Phenotype of CHARGE Syndrome with a Molecular Confirmation: A Series of 13 Cases.
Yu QX, Zhen L, Li DZ
Fetal Diagn Ther 2024;51(4):388-394. Epub 2024 Apr 17 doi: 10.1159/000538949. PMID: 38631314
Alport Syndrome: Achieving Early Diagnosis and Treatment.
Kashtan CE
Am J Kidney Dis 2021 Feb;77(2):272-279. Epub 2020 Jul 22 doi: 10.1053/j.ajkd.2020.03.026. PMID: 32712016
Molecular and phenotypic spectrum of Noonan syndrome in Chinese patients.
Li X, Yao R, Tan X, Li N, Ding Y, Li J, Chang G, Chen Y, Ma L, Wang J, Fu L, Wang X
Clin Genet 2019 Oct;96(4):290-299. Epub 2019 Jul 10 doi: 10.1111/cge.13588. PMID: 31219622
Hair phenotype in non-syndromic deafness.
Volo T, Sathiyaseelan T, Astolfi L, Guaran V, Trevisi P, Emanuelli E, Martini A
Int J Pediatr Otorhinolaryngol 2013 Aug;77(8):1280-5. Epub 2013 Jun 14 doi: 10.1016/j.ijporl.2013.05.010. PMID: 23751281
Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.
Hoornaert KP, Vereecke I, Dewinter C, Rosenberg T, Beemer FA, Leroy JG, Bendix L, Björck E, Bonduelle M, Boute O, Cormier-Daire V, De Die-Smulders C, Dieux-Coeslier A, Dollfus H, Elting M, Green A, Guerci VI, Hennekam RC, Hilhorts-Hofstee Y, Holder M, Hoyng C, Jones KJ, Josifova D, Kaitila I, Kjaergaard S, Kroes YH, Lagerstedt K, Lees M, Lemerrer M, Magnani C, Marcelis C, Martorell L, Mathieu M, McEntagart M, Mendicino A, Morton J, Orazio G, Paquis V, Reish O, Simola KO, Smithson SF, Temple KI, Van Aken E, Van Bever Y, van den Ende J, Van Hagen JM, Zelante L, Zordania R, De Paepe A, Leroy BP, De Buyzere M, Coucke PJ, Mortier GR
Eur J Hum Genet 2010 Aug;18(8):872-80. Epub 2010 Feb 24 doi: 10.1038/ejhg.2010.23. PMID: 20179744Free PMC Article

Diagnosis

Genotype and Phenotype Analyses of a Novel WFS1 Variant (c.2512C>T p.(Pro838Ser)) Associated with DFNA6/14/38.
Velde HM, Huizenga XJJ, Yntema HG, Haer-Wigman L, Beynon AJ, Oostrik J, Pegge SAH, Kremer H, Lanting CP, Pennings RJE
Genes (Basel) 2023 Feb 10;14(2) doi: 10.3390/genes14020457. PMID: 36833385Free PMC Article
Alport Syndrome: Achieving Early Diagnosis and Treatment.
Kashtan CE
Am J Kidney Dis 2021 Feb;77(2):272-279. Epub 2020 Jul 22 doi: 10.1053/j.ajkd.2020.03.026. PMID: 32712016
Molecular and phenotypic spectrum of Noonan syndrome in Chinese patients.
Li X, Yao R, Tan X, Li N, Ding Y, Li J, Chang G, Chen Y, Ma L, Wang J, Fu L, Wang X
Clin Genet 2019 Oct;96(4):290-299. Epub 2019 Jul 10 doi: 10.1111/cge.13588. PMID: 31219622
Histopathology of nonsyndromic autosomal dominant midfrequency sensorineural hearing loss.
Bahmad F, O'Malley J, Tranebjaerg L, Merchant SN
Otol Neurotol 2008 Aug;29(5):601-6. doi: 10.1097/MAO.0b013e3181778245. PMID: 18665028Free PMC Article
Waardenburg syndrome type II: phenotypic findings and diagnostic criteria.
Liu XZ, Newton VE, Read AP
Am J Med Genet 1995 Jan 2;55(1):95-100. doi: 10.1002/ajmg.1320550123. PMID: 7702105

Therapy

Alport Syndrome: Achieving Early Diagnosis and Treatment.
Kashtan CE
Am J Kidney Dis 2021 Feb;77(2):272-279. Epub 2020 Jul 22 doi: 10.1053/j.ajkd.2020.03.026. PMID: 32712016
Respiratory manifestations in 38 patients with Alström syndrome.
Boerwinkle C, Marshall JD, Bryant J, Gahl WA, Olivier KN, Gunay-Aygun M
Pediatr Pulmonol 2017 Apr;52(4):487-493. Epub 2016 Dec 28 doi: 10.1002/ppul.23607. PMID: 28029746Free PMC Article
A novel p.Leu213X mutation in GJB2 gene in a Portuguese family.
Gonçalves AC, Chora J, Matos TD, Santos R, O'Neill A, Escada P, Fialho G, Caria H
Int J Pediatr Otorhinolaryngol 2013 Jan;77(1):89-91. Epub 2012 Nov 8 doi: 10.1016/j.ijporl.2012.10.002. PMID: 23141775

Prognosis

Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene.
Pater JA, Penney C, O'Rielly DD, Griffin A, Kamal L, Brownstein Z, Vona B, Vinkler C, Shohat M, Barel O, French CR, Singh S, Werdyani S, Burt T, Abdelfatah N, Houston J, Doucette LP, Squires J, Glaser F, Roslin NM, Vincent D, Marquis P, Woodland G, Benoukraf T, Hawkey-Noble A, Avraham KB, Stanton SG, Young TL
Hum Genet 2022 Apr;141(3-4):431-444. Epub 2022 Mar 12 doi: 10.1007/s00439-022-02444-x. PMID: 35278131Free PMC Article
Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.
Hoornaert KP, Vereecke I, Dewinter C, Rosenberg T, Beemer FA, Leroy JG, Bendix L, Björck E, Bonduelle M, Boute O, Cormier-Daire V, De Die-Smulders C, Dieux-Coeslier A, Dollfus H, Elting M, Green A, Guerci VI, Hennekam RC, Hilhorts-Hofstee Y, Holder M, Hoyng C, Jones KJ, Josifova D, Kaitila I, Kjaergaard S, Kroes YH, Lagerstedt K, Lees M, Lemerrer M, Magnani C, Marcelis C, Martorell L, Mathieu M, McEntagart M, Mendicino A, Morton J, Orazio G, Paquis V, Reish O, Simola KO, Smithson SF, Temple KI, Van Aken E, Van Bever Y, van den Ende J, Van Hagen JM, Zelante L, Zordania R, De Paepe A, Leroy BP, De Buyzere M, Coucke PJ, Mortier GR
Eur J Hum Genet 2010 Aug;18(8):872-80. Epub 2010 Feb 24 doi: 10.1038/ejhg.2010.23. PMID: 20179744Free PMC Article

Clinical prediction guides

Genotype and Phenotype Analyses of a Novel WFS1 Variant (c.2512C>T p.(Pro838Ser)) Associated with DFNA6/14/38.
Velde HM, Huizenga XJJ, Yntema HG, Haer-Wigman L, Beynon AJ, Oostrik J, Pegge SAH, Kremer H, Lanting CP, Pennings RJE
Genes (Basel) 2023 Feb 10;14(2) doi: 10.3390/genes14020457. PMID: 36833385Free PMC Article
Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene.
Pater JA, Penney C, O'Rielly DD, Griffin A, Kamal L, Brownstein Z, Vona B, Vinkler C, Shohat M, Barel O, French CR, Singh S, Werdyani S, Burt T, Abdelfatah N, Houston J, Doucette LP, Squires J, Glaser F, Roslin NM, Vincent D, Marquis P, Woodland G, Benoukraf T, Hawkey-Noble A, Avraham KB, Stanton SG, Young TL
Hum Genet 2022 Apr;141(3-4):431-444. Epub 2022 Mar 12 doi: 10.1007/s00439-022-02444-x. PMID: 35278131Free PMC Article
Cochlear Implantation in Craniometaphyseal Dysplasia.
Huang AE, Adkins WJ, Patel NS
Otol Neurotol 2020 Mar;41(3):e317-e321. doi: 10.1097/MAO.0000000000002504. PMID: 31834875
Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.
Hoornaert KP, Vereecke I, Dewinter C, Rosenberg T, Beemer FA, Leroy JG, Bendix L, Björck E, Bonduelle M, Boute O, Cormier-Daire V, De Die-Smulders C, Dieux-Coeslier A, Dollfus H, Elting M, Green A, Guerci VI, Hennekam RC, Hilhorts-Hofstee Y, Holder M, Hoyng C, Jones KJ, Josifova D, Kaitila I, Kjaergaard S, Kroes YH, Lagerstedt K, Lees M, Lemerrer M, Magnani C, Marcelis C, Martorell L, Mathieu M, McEntagart M, Mendicino A, Morton J, Orazio G, Paquis V, Reish O, Simola KO, Smithson SF, Temple KI, Van Aken E, Van Bever Y, van den Ende J, Van Hagen JM, Zelante L, Zordania R, De Paepe A, Leroy BP, De Buyzere M, Coucke PJ, Mortier GR
Eur J Hum Genet 2010 Aug;18(8):872-80. Epub 2010 Feb 24 doi: 10.1038/ejhg.2010.23. PMID: 20179744Free PMC Article
A novel locus for autosomal dominant, non-syndromic hearing impairment (DFNA18) maps to chromosome 3q22 immediately adjacent to the DM2 locus.
Bönsch D, Scheer P, Neumann C, Lang-Roth R, Seifert E, Storch P, Weiller C, Lamprecht-Dinnesen A, Deufel T
Eur J Hum Genet 2001 Mar;9(3):165-70. doi: 10.1038/sj.ejhg.5200612. PMID: 11313754

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