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Hearing loss, autosomal dominant 75(DFNA75)

MedGen UID:
1713569
•Concept ID:
C5394059
•
Disease or Syndrome
Synonym: Deafness, autosomal dominant 75
 
Gene (location): TRRAP (7q22.1)
 
Monarch Initiative: MONDO:0032911
OMIM®: 618778

Definition

DFNA75 is characterized by adult onset of moderate to severe, mid to high frequency hearing loss, progressing to involvement of all frequencies (Xia 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
Abnormal cochlea morphology
MedGen UID:
871363
•Concept ID:
C4025858
•
Anatomical Abnormality
An abnormality of the cochlea.
See: Feature record | Search on this feature

Professional guidelines

PubMed

The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.
Chen CA, Bosch DG, Cho MT, Rosenfeld JA, Shinawi M, Lewis RA, Mann J, Jayakar P, Payne K, Walsh L, Moss T, Schreiber A, Schoonveld C, Monaghan KG, Elmslie F, Douglas G, Boonstra FN, Millan F, Cremers FP, McKnight D, Richard G, Juusola J, Kendall F, Ramsey K, Anyane-Yeboa K, Malkin E, Chung WK, Niyazov D, Pascual JM, Walkiewicz M, Veluchamy V, Li C, Hisama FM, de Vries BB, Schaaf C
Genet Med 2016 Nov;18(11):1143-1150. Epub 2016 Mar 17 doi: 10.1038/gim.2016.18. PMID: 26986877

Recent clinical studies

Etiology

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
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
A review of clinical characteristics and genetic backgrounds in Alport syndrome.
Nozu K, Nakanishi K, Abe Y, Udagawa T, Okada S, Okamoto T, Kaito H, Kanemoto K, Kobayashi A, Tanaka E, Tanaka K, Hama T, Fujimaru R, Miwa S, Yamamura T, Yamamura N, Horinouchi T, Minamikawa S, Nagata M, Iijima K
Clin Exp Nephrol 2019 Feb;23(2):158-168. Epub 2018 Aug 20 doi: 10.1007/s10157-018-1629-4. PMID: 30128941Free PMC Article
A Systematic Review of Radiosurgery Versus Surgery for Neurofibromatosis Type 2 Vestibular Schwannomas.
Chung LK, Nguyen TP, Sheppard JP, Lagman C, Tenn S, Lee P, Kaprealian T, Chin R, Gopen Q, Yang I
World Neurosurg 2018 Jan;109:47-58. Epub 2017 Sep 4 doi: 10.1016/j.wneu.2017.08.159. PMID: 28882713
May-Hegglin anomaly and pregnancy: a systematic review.
Hussein BA, Gomez K, Kadir RA
Blood Coagul Fibrinolysis 2013 Jul;24(5):554-61. doi: 10.1097/MBC.0b013e32835fad03. PMID: 23811802

Diagnosis

Diagnostic and therapeutic applications of genomic medicine in progressive, late-onset, nonsyndromic sensorineural hearing loss.
Jimenez JE, Nourbakhsh A, Colbert B, Mittal R, Yan D, Green CL, Nisenbaum E, Liu G, Bencie N, Rudman J, Blanton SH, Zhong Liu X
Gene 2020 Jul 15;747:144677. Epub 2020 Apr 15 doi: 10.1016/j.gene.2020.144677. PMID: 32304785Free PMC Article
Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature.
Cleaver R, Berg J, Craft E, Foster A, Gibbons RJ, Hobson E, Lachlan K, Naik S, Sampson JR, Sharif S, Smithson S; Deciphering Developmental Disorders Study, Parker MJ, Tatton-Brown K
Am J Med Genet A 2019 Mar;179(3):344-349. Epub 2019 Jan 13 doi: 10.1002/ajmg.a.61024. PMID: 30637921
A review of clinical characteristics and genetic backgrounds in Alport syndrome.
Nozu K, Nakanishi K, Abe Y, Udagawa T, Okada S, Okamoto T, Kaito H, Kanemoto K, Kobayashi A, Tanaka E, Tanaka K, Hama T, Fujimaru R, Miwa S, Yamamura T, Yamamura N, Horinouchi T, Minamikawa S, Nagata M, Iijima K
Clin Exp Nephrol 2019 Feb;23(2):158-168. Epub 2018 Aug 20 doi: 10.1007/s10157-018-1629-4. PMID: 30128941Free PMC Article
Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients.
Iwasa YI, Nishio SY, Usami SI
PLoS One 2016;11(12):e0166781. Epub 2016 Dec 2 doi: 10.1371/journal.pone.0166781. PMID: 27911912Free PMC Article
Dominant optic atrophy.
Lenaers G, Hamel C, Delettre C, Amati-Bonneau P, Procaccio V, Bonneau D, Reynier P, Milea D
Orphanet J Rare Dis 2012 Jul 9;7:46. doi: 10.1186/1750-1172-7-46. PMID: 22776096Free PMC Article

Therapy

Diagnostic and therapeutic applications of genomic medicine in progressive, late-onset, nonsyndromic sensorineural hearing loss.
Jimenez JE, Nourbakhsh A, Colbert B, Mittal R, Yan D, Green CL, Nisenbaum E, Liu G, Bencie N, Rudman J, Blanton SH, Zhong Liu X
Gene 2020 Jul 15;747:144677. Epub 2020 Apr 15 doi: 10.1016/j.gene.2020.144677. PMID: 32304785Free PMC Article
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
Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients.
Iwasa YI, Nishio SY, Usami SI
PLoS One 2016;11(12):e0166781. Epub 2016 Dec 2 doi: 10.1371/journal.pone.0166781. PMID: 27911912Free PMC Article
Bone-anchored hearing aid (Baha) in patients with Treacher Collins syndrome: tips and pitfalls.
Marsella P, Scorpecci A, Pacifico C, Tieri L
Int J Pediatr Otorhinolaryngol 2011 Oct;75(10):1308-12. Epub 2011 Aug 11 doi: 10.1016/j.ijporl.2011.07.020. PMID: 21839526

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
A review of clinical characteristics and genetic backgrounds in Alport syndrome.
Nozu K, Nakanishi K, Abe Y, Udagawa T, Okada S, Okamoto T, Kaito H, Kanemoto K, Kobayashi A, Tanaka E, Tanaka K, Hama T, Fujimaru R, Miwa S, Yamamura T, Yamamura N, Horinouchi T, Minamikawa S, Nagata M, Iijima K
Clin Exp Nephrol 2019 Feb;23(2):158-168. Epub 2018 Aug 20 doi: 10.1007/s10157-018-1629-4. PMID: 30128941Free PMC Article
Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients.
Cabanillas R, Diñeiro M, Cifuentes GA, Castillo D, Pruneda PC, Álvarez R, Sánchez-Durán N, Capín R, Plasencia A, Viejo-Díaz M, García-González N, Hernando I, Llorente JL, Repáraz-Andrade A, Torreira-Banzas C, Rosell J, Govea N, Gómez-Martínez JR, Núñez-Batalla F, Garrote JA, Mazón-Gutiérrez Á, Costales M, Isidoro-García M, García-Berrocal B, Ordóñez GR, Cadiñanos J
BMC Med Genomics 2018 Jul 9;11(1):58. doi: 10.1186/s12920-018-0375-5. PMID: 29986705Free PMC Article
Genetic association of MYH genes with hereditary hearing loss in Korea.
Kim SJ, Lee S, Park HJ, Kang TH, Sagong B, Baek JI, Oh SK, Choi JY, Lee KY, Kim UK
Gene 2016 Oct 10;591(1):177-182. Epub 2016 Jul 5 doi: 10.1016/j.gene.2016.07.011. PMID: 27393652
Dominant optic atrophy.
Lenaers G, Hamel C, Delettre C, Amati-Bonneau P, Procaccio V, Bonneau D, Reynier P, Milea D
Orphanet J Rare Dis 2012 Jul 9;7:46. doi: 10.1186/1750-1172-7-46. PMID: 22776096Free PMC Article

Clinical prediction guides

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
Clinical and genetic variability of PAX2-related disorder in the Japanese population.
Rossanti R, Morisada N, Nozu K, Kamei K, Horinouchi T, Yamamura T, Minamikawa S, Fujimura J, Nagano C, Sakakibara N, Ninchoji T, Kaito H, Ito S, Tanaka R, Iijima K
J Hum Genet 2020 Jun;65(6):541-549. Epub 2020 Mar 16 doi: 10.1038/s10038-020-0741-y. PMID: 32203253
Genetic association of MYH genes with hereditary hearing loss in Korea.
Kim SJ, Lee S, Park HJ, Kang TH, Sagong B, Baek JI, Oh SK, Choi JY, Lee KY, Kim UK
Gene 2016 Oct 10;591(1):177-182. Epub 2016 Jul 5 doi: 10.1016/j.gene.2016.07.011. PMID: 27393652
Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathy.
Sergouniotis PI, Perveen R, Thiselton DL, Giannopoulos K, Sarros M, Davies JR, Biswas S, Ansons AM, Ashworth JL, Lloyd IC, Black GC, Votruba M
Neurogenetics 2015 Jan;16(1):69-75. Epub 2014 Aug 27 doi: 10.1007/s10048-014-0416-y. PMID: 25159689
A novel locus for autosomal dominant non-syndromic hearing loss, DFNA31, maps to chromosome 6p21.3.
Snoeckx RL, Kremer H, Ensink RJ, Flothmann K, de Brouwer A, Smith RJ, Cremers CW, Van Camp G
J Med Genet 2004 Jan;41(1):11-3. doi: 10.1136/jmg.2003.010702. PMID: 14729819Free PMC Article

Recent systematic reviews

A Systematic Review of Radiosurgery Versus Surgery for Neurofibromatosis Type 2 Vestibular Schwannomas.
Chung LK, Nguyen TP, Sheppard JP, Lagman C, Tenn S, Lee P, Kaprealian T, Chin R, Gopen Q, Yang I
World Neurosurg 2018 Jan;109:47-58. Epub 2017 Sep 4 doi: 10.1016/j.wneu.2017.08.159. PMID: 28882713
May-Hegglin anomaly and pregnancy: a systematic review.
Hussein BA, Gomez K, Kadir RA
Blood Coagul Fibrinolysis 2013 Jul;24(5):554-61. doi: 10.1097/MBC.0b013e32835fad03. PMID: 23811802

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    • ClinVar
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      Related information in NCBI Gene
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      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
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