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Hearing loss, autosomal dominant 90(DFNA90)

MedGen UID:
1855139
•Concept ID:
C5935579
•
Disease or Syndrome
Synonym: Deafness, autosomal dominant 90
 
Gene (location): MYO3A (10p12.1)
 
Monarch Initiative: MONDO:0958232
OMIM®: 620722

Definition

Autosomal dominant deafness-90 (DFNA90) is a nonsyndromic form of bilateral progressive sensorineural hearing loss, which is mild to severe and affects all frequencies (summary by Dantas et al., 2018). [from OMIM]

Professional guidelines

PubMed

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 TECTA mutation in a Dutch DFNA8/12 family confirms genotype-phenotype correlation.
Plantinga RF, de Brouwer AP, Huygen PL, Kunst HP, Kremer H, Cremers CW
J Assoc Res Otolaryngol 2006 Jun;7(2):173-81. Epub 2006 Apr 25 doi: 10.1007/s10162-006-0033-z. PMID: 16718611Free PMC Article

Recent clinical studies

Etiology

Spectrum of Alport syndrome in an Indian cohort.
Yadav M, Jadon T, Singh G, Devi KG, Chandan M, Khandelwal P, Meena J, Geetha TS, Faruq M, Hari P, Sinha A, Bagga A
Pediatr Nephrol 2025 Feb;40(2):393-405. Epub 2024 Sep 16 doi: 10.1007/s00467-024-06507-1. PMID: 39278986
Phenotypic and genotypic characterization of Chinese adult patients with NLRP3-associated autoinflammatory disease with hearing loss.
Wu B, Luo Y, Wu D, Wang Y, Shen M
Rheumatology (Oxford) 2024 May 3;63(6):1690-1698. doi: 10.1093/rheumatology/kead451. PMID: 37656934
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
Options and strategies for hearing restoration in pediatric neurofibromatosis type 2.
Mahboubi H, Slattery WH 3rd, Mehta GU, Lekovic GP
Childs Nerv Syst 2020 Oct;36(10):2481-2487. Epub 2020 Jun 21 doi: 10.1007/s00381-020-04721-4. PMID: 32564156
Prevalence and clinical features of hearing loss caused by EYA4 variants.
Shinagawa J, Moteki H, Nishio SY, Ohyama K, Otsuki K, Iwasaki S, Masuda S, Oshikawa C, Ohta Y, Arai Y, Takahashi M, Sakuma N, Abe S, Sakurai Y, Sakaguchi H, Ishino T, Uehara N, Usami SI
Sci Rep 2020 Feb 27;10(1):3662. doi: 10.1038/s41598-020-60259-0. PMID: 32107406Free PMC Article

Diagnosis

Spectrum of Alport syndrome in an Indian cohort.
Yadav M, Jadon T, Singh G, Devi KG, Chandan M, Khandelwal P, Meena J, Geetha TS, Faruq M, Hari P, Sinha A, Bagga A
Pediatr Nephrol 2025 Feb;40(2):393-405. Epub 2024 Sep 16 doi: 10.1007/s00467-024-06507-1. PMID: 39278986
A novel CHD7 variant in a chinese family with CHARGE syndrome.
Shan Y, Yao L, Li L, Gao X, Jiang J
Genes Genomics 2024 Mar;46(3):379-387. Epub 2023 Jun 5 doi: 10.1007/s13258-023-01411-8. PMID: 37273125
CHARGE syndrome gastrointestinal involvement: from mouth to anus.
Hudson A, Macdonald M, Friedman JN, Blake K
Clin Genet 2017 Jul;92(1):10-17. Epub 2017 Feb 2 doi: 10.1111/cge.12892. PMID: 28155231
Type II autosomal dominant osteopetrosis (Albers-Schönberg disease): clinical and radiological manifestations in 42 patients.
Bénichou OD, Laredo JD, de Vernejoul MC
Bone 2000 Jan;26(1):87-93. doi: 10.1016/s8756-3282(99)00244-6. PMID: 10617161
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

Therapy

Prevalence and clinical features of hearing loss caused by EYA4 variants.
Shinagawa J, Moteki H, Nishio SY, Ohyama K, Otsuki K, Iwasaki S, Masuda S, Oshikawa C, Ohta Y, Arai Y, Takahashi M, Sakuma N, Abe S, Sakurai Y, Sakaguchi H, Ishino T, Uehara N, Usami SI
Sci Rep 2020 Feb 27;10(1):3662. doi: 10.1038/s41598-020-60259-0. PMID: 32107406Free PMC Article

Prognosis

A Genome-First Approach to Rare Variants in Dominant Postlingual Hearing Loss Genes in a Large Adult Population.
Ahmadmehrabi S, Li B, Hui D, Park J, Ritchie M, Rader DJ, Ruckenstein MJ, Epstein DJ, Brant J
Otolaryngol Head Neck Surg 2022 Apr;166(4):746-752. Epub 2021 Jul 20 doi: 10.1177/01945998211029544. PMID: 34281439
Mutations in LOXHD1, a recessive-deafness locus, cause dominant late-onset Fuchs corneal dystrophy.
Riazuddin SA, Parker DS, McGlumphy EJ, Oh EC, Iliff BW, Schmedt T, Jurkunas U, Schleif R, Katsanis N, Gottsch JD
Am J Hum Genet 2012 Mar 9;90(3):533-9. Epub 2012 Feb 16 doi: 10.1016/j.ajhg.2012.01.013. PMID: 22341973Free PMC Article
A Dutch family with hearing loss linked to the DFNA20/26 locus: longitudinal analysis of hearing impairment.
Kemperman MH, De Leenheer EM, Huygen PL, van Wijk E, van Duijnhoven G, Cremers FP, Kremer H, Cremers CW
Arch Otolaryngol Head Neck Surg 2004 Mar;130(3):281-8. doi: 10.1001/archotol.130.3.281. PMID: 15023833
The neuroimaging and clinical spectrum of neurofibromatosis 2.
Mautner VF, Lindenau M, Baser ME, Hazim W, Tatagiba M, Haase W, Samii M, Wais R, Pulst SM
Neurosurgery 1996 May;38(5):880-5; discussion 885-6. doi: 10.1097/00006123-199605000-00004. PMID: 8727812
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

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
A Genome-First Approach to Rare Variants in Dominant Postlingual Hearing Loss Genes in a Large Adult Population.
Ahmadmehrabi S, Li B, Hui D, Park J, Ritchie M, Rader DJ, Ruckenstein MJ, Epstein DJ, Brant J
Otolaryngol Head Neck Surg 2022 Apr;166(4):746-752. Epub 2021 Jul 20 doi: 10.1177/01945998211029544. PMID: 34281439
Phenotypic spectrum of neonatal CHARGE syndrome.
Sánchez N, Hernández M, Cruz JP, Mellado C
Rev Chil Pediatr 2019 Oct;90(5):533-538. doi: 10.32641/rchped.v90i5.1080. PMID: 31859737
A novel TECTA mutation in a Dutch DFNA8/12 family confirms genotype-phenotype correlation.
Plantinga RF, de Brouwer AP, Huygen PL, Kunst HP, Kremer H, Cremers CW
J Assoc Res Otolaryngol 2006 Jun;7(2):173-81. Epub 2006 Apr 25 doi: 10.1007/s10162-006-0033-z. PMID: 16718611Free PMC Article
A Dutch family with hearing loss linked to the DFNA20/26 locus: longitudinal analysis of hearing impairment.
Kemperman MH, De Leenheer EM, Huygen PL, van Wijk E, van Duijnhoven G, Cremers FP, Kremer H, Cremers CW
Arch Otolaryngol Head Neck Surg 2004 Mar;130(3):281-8. doi: 10.1001/archotol.130.3.281. PMID: 15023833

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