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Hearing loss, autosomal dominant 89(DFNA89)

MedGen UID:
1840993
•Concept ID:
C5830357
•
Disease or Syndrome
Synonym: Deafness, autosomal dominant 89
 
Gene (location): ATOH1 (4q22.2)
 
Monarch Initiative: MONDO:0859528
OMIM®: 620284

Definition

Autosomal dominant deafness-89 (DFNA89) is characterized by nonsyndromic progressive age-related hearing loss, with onset at birth or in early childhood (Brownstein et al., 2020). [from OMIM]

Clinical features

From HPO
Hearing impairment
MedGen UID:
235586
•Concept ID:
C1384666
•
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Genotype-Phenotype correlation of distal renal tubular acidosis in Tunisia.
Hammi Y, Charfi H, Ferjani M, Sayari T, Mrad R, Gargah T
Tunis Med 2023 Aug-Sep;101(8-9):704-708. PMID: 38445406

Recent clinical studies

Etiology

Genotype-Phenotype correlation of distal renal tubular acidosis in Tunisia.
Hammi Y, Charfi H, Ferjani M, Sayari T, Mrad R, Gargah T
Tunis Med 2023 Aug-Sep;101(8-9):704-708. PMID: 38445406
Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusis.
Boucher S, Tai FWJ, Delmaghani S, Lelli A, Singh-Estivalet A, Dupont T, Niasme-Grare M, Michel V, Wolff N, Bahloul A, Bouyacoub Y, Bouccara D, Fraysse B, Deguine O, Collet L, Thai-Van H, Ionescu E, Kemeny JL, Giraudet F, Lavieille JP, Devèze A, Roudevitch-Pujol AL, Vincent C, Renard C, Franco-Vidal V, Thibult-Apt C, Darrouzet V, Bizaguet E, Coez A, Aschard H, Michalski N, Lefevre GM, Aubois A, Avan P, Bonnet C, Petit C
Proc Natl Acad Sci U S A 2020 Dec 8;117(49):31278-31289. Epub 2020 Nov 23 doi: 10.1073/pnas.2010782117. PMID: 33229591Free PMC Article
Is routine audiometric testing necessary for children with isolated preauricular lesions?
Wu GT, Devine C, Xu A, Geelan-Hansen K, Anne S
Int J Pediatr Otorhinolaryngol 2017 Feb;93:68-70. Epub 2016 Dec 27 doi: 10.1016/j.ijporl.2016.12.032. PMID: 28109500
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
Clinical course of vestibular schwannoma in pediatric neurofibromatosis Type 2.
Choi JW, Lee JY, Phi JH, Wang KC, Chung HT, Paek SH, Kim DG, Park SH, Kim SK
J Neurosurg Pediatr 2014 Jun;13(6):650-7. Epub 2014 Apr 11 doi: 10.3171/2014.3.PEDS13455. PMID: 24724714

Diagnosis

Genotype-Phenotype correlation of distal renal tubular acidosis in Tunisia.
Hammi Y, Charfi H, Ferjani M, Sayari T, Mrad R, Gargah T
Tunis Med 2023 Aug-Sep;101(8-9):704-708. PMID: 38445406
Is routine audiometric testing necessary for children with isolated preauricular lesions?
Wu GT, Devine C, Xu A, Geelan-Hansen K, Anne S
Int J Pediatr Otorhinolaryngol 2017 Feb;93:68-70. Epub 2016 Dec 27 doi: 10.1016/j.ijporl.2016.12.032. PMID: 28109500
Noonan syndrome.
Bhambhani V, Muenke M
Am Fam Physician 2014 Jan 1;89(1):37-43. PMID: 24444506Free PMC Article
Clinical phenotype and mutations in connexin 26 (DFNB1/GJB2), the most common cause of childhood hearing loss.
Cohn ES, Kelley PM
Am J Med Genet 1999 Sep 24;89(3):130-6. PMID: 10704187
Townes-Brocks syndrome.
Powell CM, Michaelis RC
J Med Genet 1999 Feb;36(2):89-93. PMID: 10051003Free PMC Article

Therapy

Further delineation of Aymé-Gripp syndrome and use of automated facial analysis tool.
Amudhavalli SM, Hanson R, Angle B, Bontempo K, Gripp KW
Am J Med Genet A 2018 Jul;176(7):1648-1656. doi: 10.1002/ajmg.a.38832. PMID: 30160832
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
Intrafamilial correlation of clinical manifestations in neurofibromatosis 2 (NF2).
Zhao Y, Kumar RA, Baser ME, Evans DG, Wallace A, Kluwe L, Mautner VF, Parry DM, Rouleau GA, Joe H, Friedman JM
Genet Epidemiol 2002 Oct;23(3):245-59. doi: 10.1002/gepi.10181. PMID: 12384977

Prognosis

Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusis.
Boucher S, Tai FWJ, Delmaghani S, Lelli A, Singh-Estivalet A, Dupont T, Niasme-Grare M, Michel V, Wolff N, Bahloul A, Bouyacoub Y, Bouccara D, Fraysse B, Deguine O, Collet L, Thai-Van H, Ionescu E, Kemeny JL, Giraudet F, Lavieille JP, Devèze A, Roudevitch-Pujol AL, Vincent C, Renard C, Franco-Vidal V, Thibult-Apt C, Darrouzet V, Bizaguet E, Coez A, Aschard H, Michalski N, Lefevre GM, Aubois A, Avan P, Bonnet C, Petit C
Proc Natl Acad Sci U S A 2020 Dec 8;117(49):31278-31289. Epub 2020 Nov 23 doi: 10.1073/pnas.2010782117. PMID: 33229591Free PMC Article
Is routine audiometric testing necessary for children with isolated preauricular lesions?
Wu GT, Devine C, Xu A, Geelan-Hansen K, Anne S
Int J Pediatr Otorhinolaryngol 2017 Feb;93:68-70. Epub 2016 Dec 27 doi: 10.1016/j.ijporl.2016.12.032. PMID: 28109500
Clinical course of vestibular schwannoma in pediatric neurofibromatosis Type 2.
Choi JW, Lee JY, Phi JH, Wang KC, Chung HT, Paek SH, Kim DG, Park SH, Kim SK
J Neurosurg Pediatr 2014 Jun;13(6):650-7. Epub 2014 Apr 11 doi: 10.3171/2014.3.PEDS13455. PMID: 24724714
Alport syndrome. Molecular genetic aspects.
Hertz JM
Dan Med Bull 2009 Aug;56(3):105-52. PMID: 19728970

Clinical prediction guides

Alteration of Bone Density, Microarchitecture, and Strength in Patients with Camurati-Engelmann Disease: Assessed by HR-pQCT.
Li Q, Zhao Z, Wu B, Pang Q, Cui L, Zhang L, Jiang Y, Wang O, Li M, Xing X, Hu Y, Yu W, Meng X, Jiajue R, Xia W
J Bone Miner Res 2022 Jan;37(1):78-86. Epub 2021 Sep 28 doi: 10.1002/jbmr.4436. PMID: 34490910
Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusis.
Boucher S, Tai FWJ, Delmaghani S, Lelli A, Singh-Estivalet A, Dupont T, Niasme-Grare M, Michel V, Wolff N, Bahloul A, Bouyacoub Y, Bouccara D, Fraysse B, Deguine O, Collet L, Thai-Van H, Ionescu E, Kemeny JL, Giraudet F, Lavieille JP, Devèze A, Roudevitch-Pujol AL, Vincent C, Renard C, Franco-Vidal V, Thibult-Apt C, Darrouzet V, Bizaguet E, Coez A, Aschard H, Michalski N, Lefevre GM, Aubois A, Avan P, Bonnet C, Petit C
Proc Natl Acad Sci U S A 2020 Dec 8;117(49):31278-31289. Epub 2020 Nov 23 doi: 10.1073/pnas.2010782117. PMID: 33229591Free PMC Article
Defects of mutant DNMT1 are linked to a spectrum of neurological disorders.
Baets J, Duan X, Wu Y, Smith G, Seeley WW, Mademan I, McGrath NM, Beadell NC, Khoury J, Botuyan MV, Mer G, Worrell GA, Hojo K, DeLeon J, Laura M, Liu YT, Senderek J, Weis J, Van den Bergh P, Merrill SL, Reilly MM, Houlden H, Grossman M, Scherer SS, De Jonghe P, Dyck PJ, Klein CJ
Brain 2015 Apr;138(Pt 4):845-61. Epub 2015 Feb 11 doi: 10.1093/brain/awv010. PMID: 25678562Free PMC Article
Clinical course of vestibular schwannoma in pediatric neurofibromatosis Type 2.
Choi JW, Lee JY, Phi JH, Wang KC, Chung HT, Paek SH, Kim DG, Park SH, Kim SK
J Neurosurg Pediatr 2014 Jun;13(6):650-7. Epub 2014 Apr 11 doi: 10.3171/2014.3.PEDS13455. PMID: 24724714
A novel locus for autosomal dominant nonsyndromic hearing loss identified at 5q31.1-32 in a Chinese pedigree.
Xia J, Deng H, Feng Y, Zhang H, Pan Q, Dai H, Long Z, Tang B, Deng H, Chen Y, Zhang R, Zheng D, He Y, Xia K
J Hum Genet 2002;47(12):635-40. doi: 10.1007/s100380200098. PMID: 12522684

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