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Hearing loss, autosomal dominant 87(DFNA87)

MedGen UID:
1840978
•Concept ID:
C5830342
•
Disease or Syndrome
Synonym: Deafness, autosomal dominant 87
 
Gene (location): PI4KB (1q21.3)
 
Monarch Initiative: MONDO:0859525
OMIM®: 620281

Definition

Autosomal dominant deafness-87 (DFNA87) is characterized by nonsyndromic prelingual profound sensorineural hearing loss with inner ear anomalies, including cochlear maldevelopment, absence of the osseous spiral lamina, and/or an enlarged vestibular aqueduct (Su 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
Enlarged vestibular aqueduct syndrome
MedGen UID:
355050
•Concept ID:
C1863752
•
Finding
Increased size of the vestibular aqueduct.
See: Feature record | Search on this feature
Incomplete partition of the cochlea type II
MedGen UID:
892450
•Concept ID:
C4025857
•
Finding
With incomplete partition II, the cochlea consists of 1.5 turns; the apical and middle cochlea turns are undifferentiated and form a cystic apex. The vestibule is normal while the vestibular aqueduct is always enlarged. Developmental arrest occurs at the seventh week of gestation.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Next-generation sequencing facilitates genetic diagnosis and improves the management of patients with hearing loss in clinical practice.
Liu C, Huang Y, Zhang Y, Ding H, Yu L, Wang A, Wang Y, Zeng Y, Liu L, Liu Y, Qi Y, Li F, Wu J, Du L, Mai F, Zhang Q, Wang X, Yin A
Int J Pediatr Otorhinolaryngol 2022 Oct;161:111258. Epub 2022 Jul 31 doi: 10.1016/j.ijporl.2022.111258. PMID: 35939872

Recent clinical studies

Etiology

Next-generation sequencing facilitates genetic diagnosis and improves the management of patients with hearing loss in clinical practice.
Liu C, Huang Y, Zhang Y, Ding H, Yu L, Wang A, Wang Y, Zeng Y, Liu L, Liu Y, Qi Y, Li F, Wu J, Du L, Mai F, Zhang Q, Wang X, Yin A
Int J Pediatr Otorhinolaryngol 2022 Oct;161:111258. Epub 2022 Jul 31 doi: 10.1016/j.ijporl.2022.111258. PMID: 35939872
Prevalence of TECTA mutation in patients with mid-frequency sensorineural hearing loss.
Yamamoto N, Mutai H, Namba K, Morita N, Masuda S, Nishi Y, Nakano A, Masuda S, Fujioka M, Kaga K, Ogawa K, Matsunaga T
Orphanet J Rare Dis 2017 Sep 25;12(1):157. doi: 10.1186/s13023-017-0708-z. PMID: 28946916Free PMC Article
Mutation update and uncommon phenotypes in a French cohort of 96 patients with WFS1-related disorders.
Chaussenot A, Rouzier C, Quere M, Plutino M, Ait-El-Mkadem S, Bannwarth S, Barth M, Dollfus H, Charles P, Nicolino M, Chabrol B, Vialettes B, Paquis-Flucklinger V
Clin Genet 2015 May;87(5):430-9. Epub 2014 Aug 6 doi: 10.1111/cge.12437. PMID: 24890733
Evaluation of deaf children in a large series in Turkey.
Ozturk O, Silan F, Oghan F, Egeli E, Belli S, Tokmak A, Egeli A, Harputluoglu U, Onder HI, Zafer C
Int J Pediatr Otorhinolaryngol 2005 Mar;69(3):367-73. Epub 2004 Dec 21 doi: 10.1016/j.ijporl.2004.11.001. PMID: 15733596
Clinical and genetic aspects in autosomal dominant inherited osteogenesis imperfecta type I.
Garretsen TJ, Cremers CW
Ann N Y Acad Sci 1991;630:240-8. doi: 10.1111/j.1749-6632.1991.tb19594.x. PMID: 1952595

Diagnosis

Delineating Wolfram-like syndrome: A systematic review and discussion of the WFS1-associated disease spectrum.
de Muijnck C, Brink JBT, Bergen AA, Boon CJF, van Genderen MM
Surv Ophthalmol 2023 Jul-Aug;68(4):641-654. Epub 2023 Feb 9 doi: 10.1016/j.survophthal.2023.01.012. PMID: 36764396
Next-generation sequencing facilitates genetic diagnosis and improves the management of patients with hearing loss in clinical practice.
Liu C, Huang Y, Zhang Y, Ding H, Yu L, Wang A, Wang Y, Zeng Y, Liu L, Liu Y, Qi Y, Li F, Wu J, Du L, Mai F, Zhang Q, Wang X, Yin A
Int J Pediatr Otorhinolaryngol 2022 Oct;161:111258. Epub 2022 Jul 31 doi: 10.1016/j.ijporl.2022.111258. PMID: 35939872
Frequency and origin of the c.2090T>G p.(Leu697Trp) MYO3A variant associated with autosomal dominant hearing loss.
Bueno AS, Nunes K, Dias AMM, Alves LU, Mendes BCA, Sampaio-Silva J, Smits J, Yntema HG, Meyer D, Lezirovitz K, Mingroni-Netto RC
Eur J Hum Genet 2022 Jan;30(1):13-21. Epub 2021 May 6 doi: 10.1038/s41431-021-00891-0. PMID: 33953343Free PMC Article
Evaluation of the contribution of the EYA4 and GRHL2 genes in Korean patients with autosomal dominant non-syndromic hearing loss.
Kim YR, Kim MA, Sagong B, Bae SH, Lee HJ, Kim HJ, Choi JY, Lee KY, Kim UK
PLoS One 2015;10(3):e0119443. Epub 2015 Mar 17 doi: 10.1371/journal.pone.0119443. PMID: 25781927Free PMC Article
Autosomal dominant optic atrophy. A spectrum of disability.
Hoyt CS
Ophthalmology 1980 Mar;87(3):245-51. doi: 10.1016/s0161-6420(80)35247-0. PMID: 7422264

Therapy

Clinical and genetic aspects in autosomal dominant inherited osteogenesis imperfecta type I.
Garretsen TJ, Cremers CW
Ann N Y Acad Sci 1991;630:240-8. doi: 10.1111/j.1749-6632.1991.tb19594.x. PMID: 1952595

Prognosis

Natural History of KCNQ4 p.G285S Related Hearing Loss, Construction of iPSC and Mouse Model.
Zhang X, Shi T, Li J, Wu X, Wu K, Li D, Wang D, Guan J, Wang H
Laryngoscope 2024 May;134(5):2356-2363. Epub 2023 Nov 14 doi: 10.1002/lary.31179. PMID: 37962101
Prevalence of TECTA mutation in patients with mid-frequency sensorineural hearing loss.
Yamamoto N, Mutai H, Namba K, Morita N, Masuda S, Nishi Y, Nakano A, Masuda S, Fujioka M, Kaga K, Ogawa K, Matsunaga T
Orphanet J Rare Dis 2017 Sep 25;12(1):157. doi: 10.1186/s13023-017-0708-z. PMID: 28946916Free PMC Article
Screening of the SLC17A8 gene as a causative factor for autosomal dominant non-syndromic hearing loss in Koreans.
Ryu N, Sagong B, Park HJ, Kim MA, Lee KY, Choi JY, Kim UK
BMC Med Genet 2016 Jan 22;17:6. doi: 10.1186/s12881-016-0269-3. PMID: 26797701Free PMC Article
Evaluation of the contribution of the EYA4 and GRHL2 genes in Korean patients with autosomal dominant non-syndromic hearing loss.
Kim YR, Kim MA, Sagong B, Bae SH, Lee HJ, Kim HJ, Choi JY, Lee KY, Kim UK
PLoS One 2015;10(3):e0119443. Epub 2015 Mar 17 doi: 10.1371/journal.pone.0119443. PMID: 25781927Free PMC Article

Clinical prediction guides

Hypoparathyroidism, deafness, and renal dysplasia syndrome: 20 Years after the identification of the first GATA3 mutations.
Lemos MC, Thakker RV
Hum Mutat 2020 Aug;41(8):1341-1350. Epub 2020 Jun 11 doi: 10.1002/humu.24052. PMID: 32442337
Prevalence of TECTA mutation in patients with mid-frequency sensorineural hearing loss.
Yamamoto N, Mutai H, Namba K, Morita N, Masuda S, Nishi Y, Nakano A, Masuda S, Fujioka M, Kaga K, Ogawa K, Matsunaga T
Orphanet J Rare Dis 2017 Sep 25;12(1):157. doi: 10.1186/s13023-017-0708-z. PMID: 28946916Free PMC Article
Screening of the SLC17A8 gene as a causative factor for autosomal dominant non-syndromic hearing loss in Koreans.
Ryu N, Sagong B, Park HJ, Kim MA, Lee KY, Choi JY, Kim UK
BMC Med Genet 2016 Jan 22;17:6. doi: 10.1186/s12881-016-0269-3. PMID: 26797701Free PMC Article
Evaluation of the contribution of the EYA4 and GRHL2 genes in Korean patients with autosomal dominant non-syndromic hearing loss.
Kim YR, Kim MA, Sagong B, Bae SH, Lee HJ, Kim HJ, Choi JY, Lee KY, Kim UK
PLoS One 2015;10(3):e0119443. Epub 2015 Mar 17 doi: 10.1371/journal.pone.0119443. PMID: 25781927Free PMC Article
Clinical and genetic aspects in autosomal dominant inherited osteogenesis imperfecta type I.
Garretsen TJ, Cremers CW
Ann N Y Acad Sci 1991;630:240-8. doi: 10.1111/j.1749-6632.1991.tb19594.x. PMID: 1952595

Recent systematic reviews

Delineating Wolfram-like syndrome: A systematic review and discussion of the WFS1-associated disease spectrum.
de Muijnck C, Brink JBT, Bergen AA, Boon CJF, van Genderen MM
Surv Ophthalmol 2023 Jul-Aug;68(4):641-654. Epub 2023 Feb 9 doi: 10.1016/j.survophthal.2023.01.012. PMID: 36764396

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