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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.
See: Feature record | Search on this feature
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
Abnormal vestibular function
MedGen UID:
334848
•Concept ID:
C1843865
•
Finding
An abnormality of the functioning of the vestibular apparatus.
See: Feature record | Search on this feature
Abnormal retinal morphology
MedGen UID:
472885
•Concept ID:
C0035300
•
Finding
A structural abnormality of the retina.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families.
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
GJB2 mutations in hearing impairment: identification of a broad clinical spectrum for improved genetic counseling.
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

Baseline Microperimetry and OCT in the RUSH2A Study: Structure-Function Association and Correlation With Disease Severity.
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
CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects.
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
Decreased disulphide/thiol ratio in patients with autosomal recessive non-syndromic hearing loss.
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
Residual Hearing in DFNB1 Deafness and Its Clinical Implication in a Korean Population.
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
Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.
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

Childhood Hearing Impairment in Senegal.
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
Baseline Microperimetry and OCT in the RUSH2A Study: Structure-Function Association and Correlation With Disease Severity.
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
Clinical Peculiarities in a Cohort of Patients with Wolfram Syndrome 1.
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
Clinical and mutational spectrum of Japanese patients with recessive variants in SH3TC2.
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
Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.
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

CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects.
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
Respiratory manifestations in 38 patients with Alström syndrome.
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
Carrier frequency of the GJB2 mutations that cause hereditary hearing loss in the Japanese population.
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

Clinical Peculiarities in a Cohort of Patients with Wolfram Syndrome 1.
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
Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families.
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
Residual Hearing in DFNB1 Deafness and Its Clinical Implication in a Korean Population.
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
ILDR1: Novel mutation and a rare cause of congenital deafness in the Saudi Arabian population.
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
Estimation of carrier frequencies of six autosomal-recessive Mendelian disorders in the Korean population.
Song MJ, Lee ST, Lee MK, Ji Y, Kim JW, Ki CS
J Hum Genet 2012 Feb;57(2):139-44. Epub 2011 Dec 15 doi: 10.1038/jhg.2011.144. PMID: 22170460

Clinical prediction guides

Childhood Hearing Impairment in Senegal.
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
Evolutionary origin of pathogenic GJB2 alleles in China.
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
Clinical and mutational spectrum of Japanese patients with recessive variants in SH3TC2.
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
Residual Hearing in DFNB1 Deafness and Its Clinical Implication in a Korean Population.
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
DFNB74, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 12q14.2-q15.
Waryah AM, Rehman A, Ahmed ZM, Bashir ZH, Khan SY, Zafar AU, Riazuddin S, Friedman TB, Riazuddin S
Clin Genet 2009 Sep;76(3):270-5. Epub 2009 Jul 23 doi: 10.1111/j.1399-0004.2009.01209.x. PMID: 19650862

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