U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Hearing loss, autosomal recessive 57(DFNB57)

MedGen UID:
1631180
Concept ID:
C4693893
Disease or Syndrome
Synonym: Deafness, autosomal recessive 57
 
Gene (location): PDZD7 (10q24.31)
 
Monarch Initiative: MONDO:0033201
OMIM®: 618003

Definition

Autosomal recessive deafness-57 (DFNB57) is characterized by symmetric bilateral moderate to severe hearing loss, represented by gently downward-sloping audiograms. The hearing loss may be mildly progressive (Guan et al., 2018). [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.
Hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Abnormal vestibular function
MedGen UID:
334848
Concept ID:
C1843865
Finding
An abnormality of the functioning of the vestibular apparatus.
Abnormal retinal morphology
MedGen UID:
472885
Concept ID:
C0035300
Finding
A structural abnormality of the retina.
Visual impairment
MedGen UID:
777085
Concept ID:
C3665347
Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.

Professional guidelines

PubMed

Teryutin FM, Pshennikova VG, Solovyev AV, Romanov GP, Fedorova SA, Barashkov NA
PLoS One 2024;19(10):e0309439. Epub 2024 Oct 22 doi: 10.1371/journal.pone.0309439. PMID: 39436953Free PMC Article
Pérez-Carro R, Blanco-Kelly F, Galbis-Martínez L, García-García G, Aller E, García-Sandoval B, Mínguez P, Corton M, Mahíllo-Fernández I, Martín-Mérida I, Avila-Fernández A, Millán JM, Ayuso C
PLoS One 2018;13(6):e0199048. Epub 2018 Jun 18 doi: 10.1371/journal.pone.0199048. PMID: 29912909Free PMC Article
Frei K, Ramsebner R, Lucas T, Hamader G, Szuhai K, Weipoltshammer K, Baumgartner WD, Wachtler FJ, Kirschhofer K
Laryngoscope 2005 Mar;115(3):461-5. doi: 10.1097/01.mlg.0000157855.47143.71. PMID: 15744158

Recent clinical studies

Etiology

Wang R, Zhuang BX, Guo W, Li J, Lin C, Yang S
Acta Otolaryngol 2024 Jan;144(1):39-43. Epub 2024 Jan 30 doi: 10.1080/00016489.2024.2308014. PMID: 38289678
Lad EM, Duncan JL, Liang W, Maguire MG, Ayala AR, Audo I, Birch DG, Carroll J, Cheetham JK, Durham TA, Fahim AT, Loo J, Deng Z, Mukherjee D, Heon E, Hufnagel RB, Guan B, Iannaccone A, Jaffe GJ, Kay CN, Michaelides M, Pennesi ME, Vincent A, Weng CY, Farsiu S; Foundation Fighting Blindness Consortium Investigator Group
Am J Ophthalmol 2022 Dec;244:98-116. Epub 2022 Aug 22 doi: 10.1016/j.ajo.2022.08.013. PMID: 36007554Free PMC Article
Patel ND, Ascha MS, Manzoor NF, Gupta A, Semaan M, Megerian C, Otteson TD
Am J Otolaryngol 2018 Nov-Dec;39(6):657-663. Epub 2018 Jun 5 doi: 10.1016/j.amjoto.2018.06.006. PMID: 30153950
Balta B, Gundogdu R, Erdogan M, Alisik M, Kiraz A, Ozcan I, Erel O
Int J Pediatr Otorhinolaryngol 2018 Sep;112:188-192. Epub 2018 Jul 10 doi: 10.1016/j.ijporl.2018.07.014. PMID: 30055731
McGee TL, Seyedahmadi BJ, Sweeney MO, Dryja TP, Berson EL
J Med Genet 2010 Jul;47(7):499-506. Epub 2010 May 27 doi: 10.1136/jmg.2009.075143. PMID: 20507924Free PMC Article

Diagnosis

Dia Y, Loum B, Dieng YJKB, Diop JPD, Adadey SM, Aboagye ET, Ba SA, Touré AA, Niang F, Diaga Sarr P, Tidiane Ly CA, Sène ARG, Kock C, Bassier R, Popel K, Ndiaye Diallo R, Wonkam A, Diallo BK
Genes (Basel) 2023 Feb 23;14(3) doi: 10.3390/genes14030562. PMID: 36980833Free PMC Article
Salzano G, Rigoli L, Valenzise M, Chimenz R, Passanisi S, Lombardo F
Int J Environ Res Public Health 2022 Jan 4;19(1) doi: 10.3390/ijerph19010520. PMID: 35010780Free PMC Article
Pérez-Carro R, Blanco-Kelly F, Galbis-Martínez L, García-García G, Aller E, García-Sandoval B, Mínguez P, Corton M, Mahíllo-Fernández I, Martín-Mérida I, Avila-Fernández A, Millán JM, Ayuso C
PLoS One 2018;13(6):e0199048. Epub 2018 Jun 18 doi: 10.1371/journal.pone.0199048. PMID: 29912909Free PMC Article
Yuan JH, Hashiguchi A, Okamoto Y, Yoshimura A, Ando M, Shiomi K, Saito K, Takahashi M, Ichinose K, Ohmichi T, Ichikawa K, Tadashi A, Takigawa H, Shibayama H, Takashima H
J Hum Genet 2018 Mar;63(3):281-287. Epub 2018 Jan 10 doi: 10.1038/s10038-017-0388-5. PMID: 29321516
McGee TL, Seyedahmadi BJ, Sweeney MO, Dryja TP, Berson EL
J Med Genet 2010 Jul;47(7):499-506. Epub 2010 May 27 doi: 10.1136/jmg.2009.075143. PMID: 20507924Free PMC Article

Therapy

Lv J, Wang H, Cheng X, Chen Y, Wang D, Zhang L, Cao Q, Tang H, Hu S, Gao K, Xun M, Wang J, Wang Z, Zhu B, Cui C, Gao Z, Guo L, Yu S, Jiang L, Yin Y, Zhang J, Chen B, Wang W, Chai R, Chen ZY, Li H, Shu Y
Lancet 2024 May 25;403(10441):2317-2325. Epub 2024 Jan 24 doi: 10.1016/S0140-6736(23)02874-X. PMID: 38280389
Nasser H, Vera L, Elmaleh-Bergès M, Steindl K, Letard P, Teissier N, Ernault A, Guimiot F, Afenjar A, Moutard ML, Héron D, Alembik Y, Momtchilova M, Milani P, Kubis N, Pouvreau N, Zollino M, Guilmin Crepon S, Kaguelidou F, Gressens P, Verloes A, Rauch A, El Ghouzzi V, Drunat S, Passemard S
J Med Genet 2020 Jun;57(6):389-399. Epub 2020 Feb 3 doi: 10.1136/jmedgenet-2019-106474. PMID: 32015000
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
Taniguchi M, Matsuo H, Shimizu S, Nakayama A, Suzuki K, Hamajima N, Shinomiya N, Nishio S, Kosugi S, Usami S, Ito J, Kitajiri S
J Hum Genet 2015 Oct;60(10):613-7. Epub 2015 Jul 16 doi: 10.1038/jhg.2015.82. PMID: 26178431Free PMC Article

Prognosis

Salzano G, Rigoli L, Valenzise M, Chimenz R, Passanisi S, Lombardo F
Int J Environ Res Public Health 2022 Jan 4;19(1) doi: 10.3390/ijerph19010520. PMID: 35010780Free PMC Article
Pérez-Carro R, Blanco-Kelly F, Galbis-Martínez L, García-García G, Aller E, García-Sandoval B, Mínguez P, Corton M, Mahíllo-Fernández I, Martín-Mérida I, Avila-Fernández A, Millán JM, Ayuso C
PLoS One 2018;13(6):e0199048. Epub 2018 Jun 18 doi: 10.1371/journal.pone.0199048. PMID: 29912909Free PMC Article
Taniguchi M, Matsuo H, Shimizu S, Nakayama A, Suzuki K, Hamajima N, Shinomiya N, Nishio S, Kosugi S, Usami S, Ito J, Kitajiri S
J Hum Genet 2015 Oct;60(10):613-7. Epub 2015 Jul 16 doi: 10.1038/jhg.2015.82. PMID: 26178431Free PMC Article
Kim SY, Kim AR, Han KH, Kim MY, Jeon EH, Koo JW, Oh SH, Choi BY
PLoS One 2015;10(6):e0125416. Epub 2015 Jun 10 doi: 10.1371/journal.pone.0125416. PMID: 26061264Free PMC Article
Ramzan K, Taibah K, Tahir AI, Al-Tassan N, Berhan A, Khater AM, Al-Hazzaa SA, Al-Owain M, Imtiaz F
Eur J Med Genet 2014 May-Jun;57(6):253-8. Epub 2014 Apr 21 doi: 10.1016/j.ejmg.2014.04.004. PMID: 24768815

Clinical prediction guides

Lv J, Wang H, Cheng X, Chen Y, Wang D, Zhang L, Cao Q, Tang H, Hu S, Gao K, Xun M, Wang J, Wang Z, Zhu B, Cui C, Gao Z, Guo L, Yu S, Jiang L, Yin Y, Zhang J, Chen B, Wang W, Chai R, Chen ZY, Li H, Shu Y
Lancet 2024 May 25;403(10441):2317-2325. Epub 2024 Jan 24 doi: 10.1016/S0140-6736(23)02874-X. PMID: 38280389
Dia Y, Loum B, Dieng YJKB, Diop JPD, Adadey SM, Aboagye ET, Ba SA, Touré AA, Niang F, Diaga Sarr P, Tidiane Ly CA, Sène ARG, Kock C, Bassier R, Popel K, Ndiaye Diallo R, Wonkam A, Diallo BK
Genes (Basel) 2023 Feb 23;14(3) doi: 10.3390/genes14030562. PMID: 36980833Free PMC Article
Jiang Y, Huang S, Zhang Y, Fang N, Liu Q, Liu Y, Bai L, Han D, Dai P
Clin Genet 2022 Oct;102(4):305-313. Epub 2022 Jul 24 doi: 10.1111/cge.14191. PMID: 35841299
Yuan JH, Hashiguchi A, Okamoto Y, Yoshimura A, Ando M, Shiomi K, Saito K, Takahashi M, Ichinose K, Ohmichi T, Ichikawa K, Tadashi A, Takigawa H, Shibayama H, Takashima H
J Hum Genet 2018 Mar;63(3):281-287. Epub 2018 Jan 10 doi: 10.1038/s10038-017-0388-5. PMID: 29321516
Kim SY, Kim AR, Han KH, Kim MY, Jeon EH, Koo JW, Oh SH, Choi BY
PLoS One 2015;10(6):e0125416. Epub 2015 Jun 10 doi: 10.1371/journal.pone.0125416. PMID: 26061264Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...