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Autosomal dominant nonsyndromic hearing loss 5(DFNA5)

MedGen UID:
331398
•Concept ID:
C1832932
•
Disease or Syndrome
Synonyms: Deafness, autosomal dominant 5; DFNA 5 Nonsyndromic Hearing Loss and Deafness
 
Gene (location): GSDME (7p15.3)
 
Monarch Initiative: MONDO:0010973
OMIM®: 600994

Definition

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GSDME gene. [from MONDO]

Clinical features

From HPO
Progressive sensorineural hearing impairment
MedGen UID:
335894
•Concept ID:
C1843156
•
Disease or Syndrome
A progressive form of sensorineural hearing impairment.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Novel KCNQ4 variants in different functional domains confer genotype- and mechanism-based therapeutics in patients with nonsyndromic hearing loss.
Lee SY, Choi HB, Park M, Choi IS, An J, Kim A, Kim E, Kim N, Han JH, Kim MY, Lee SM, Oh DY, Kim BJ, Yi N, Kim NKD, Lee C, Park WY, Koh YI, Gee HY, Cho HS, Kang TM, Choi BY
Exp Mol Med 2021 Jul;53(7):1192-1204. Epub 2021 Jul 28 doi: 10.1038/s12276-021-00653-4. PMID: 34316018Free PMC Article
Comprehensive genetic screening of KCNQ4 in a large autosomal dominant nonsyndromic hearing loss cohort: genotype-phenotype correlations and a founder mutation.
Naito T, Nishio SY, Iwasa Y, Yano T, Kumakawa K, Abe S, Ishikawa K, Kojima H, Namba A, Oshikawa C, Usami S
PLoS One 2013;8(5):e63231. Epub 2013 May 23 doi: 10.1371/journal.pone.0063231. PMID: 23717403Free PMC Article
A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype-phenotype correlation.
Kamada F, Kure S, Kudo T, Suzuki Y, Oshima T, Ichinohe A, Kojima K, Niihori T, Kanno J, Narumi Y, Narisawa A, Kato K, Aoki Y, Ikeda K, Kobayashi T, Matsubara Y
J Hum Genet 2006;51(5):455-460. Epub 2006 Apr 5 doi: 10.1007/s10038-006-0384-7. PMID: 16596322

Recent clinical studies

Etiology

Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study.
Tropitzsch A, Schade-Mann T, Gamerdinger P, Dofek S, Schulte B, Schulze M, Battke F, Fehr S, Biskup S, Heyd A, Müller M, Löwenheim H, Vona B, Holderried M
Ear Hear 2022 May/Jun;43(3):1049-1066. doi: 10.1097/AUD.0000000000001159. PMID: 34753855Free PMC Article
Prevalence and Clinical Characteristics of Hearing Loss Caused by MYH14 Variants.
Hiramatsu K, Nishio SY, Kitajiri SI, Kitano T, Moteki H, Usami SI, On Behalf Of The Deafness Gene Study Consortium
Genes (Basel) 2021 Oct 15;12(10) doi: 10.3390/genes12101623. PMID: 34681017Free PMC Article
Comprehensive genetic screening of KCNQ4 in a large autosomal dominant nonsyndromic hearing loss cohort: genotype-phenotype correlations and a founder mutation.
Naito T, Nishio SY, Iwasa Y, Yano T, Kumakawa K, Abe S, Ishikawa K, Kojima H, Namba A, Oshikawa C, Usami S
PLoS One 2013;8(5):e63231. Epub 2013 May 23 doi: 10.1371/journal.pone.0063231. PMID: 23717403Free PMC Article
Early onset and rapid progression of dominant nonsyndromic DFNA36 hearing loss.
Makishima T, Kurima K, Brewer CC, Griffith AJ
Otol Neurotol 2004 Sep;25(5):714-9. doi: 10.1097/00129492-200409000-00011. PMID: 15354000
Nonsyndromic hearing loss: an analysis of audiograms.
Liu X, Xu L
Ann Otol Rhinol Laryngol 1994 Jun;103(6):428-33. doi: 10.1177/000348949410300602. PMID: 8203808

Diagnosis

Monogenic Causes of Low-Frequency Non-Syndromic Hearing Loss.
Gan NS, Oziębło D, Skarżyński H, Ołdak M
Audiol Neurootol 2023;28(5):327-337. Epub 2023 Apr 28 doi: 10.1159/000529464. PMID: 37121227
Prevalence and Clinical Characteristics of Hearing Loss Caused by MYH14 Variants.
Hiramatsu K, Nishio SY, Kitajiri SI, Kitano T, Moteki H, Usami SI, On Behalf Of The Deafness Gene Study Consortium
Genes (Basel) 2021 Oct 15;12(10) doi: 10.3390/genes12101623. PMID: 34681017Free PMC Article
A novel MYH14 mutation in a Chinese family with autosomal dominant nonsyndromic hearing loss.
Wang M, Zhou Y, Zhang F, Fan Z, Bai X, Wang H
BMC Med Genet 2020 Jul 25;21(1):154. doi: 10.1186/s12881-020-01086-y. PMID: 32711451Free PMC Article
Early onset and rapid progression of dominant nonsyndromic DFNA36 hearing loss.
Makishima T, Kurima K, Brewer CC, Griffith AJ
Otol Neurotol 2004 Sep;25(5):714-9. doi: 10.1097/00129492-200409000-00011. PMID: 15354000
A gene for autosomal dominant nonsyndromic hearing loss (DFNA12) maps to chromosome 11q22-24.
Verhoeven K, Van Camp G, Govaerts PJ, Balemans W, Schatteman I, Verstreken M, Van Laer L, Smith RJ, Brown MR, Van de Heyning PH, Somers T, Offeciers FE, Willems PJ
Am J Hum Genet 1997 May;60(5):1168-73. PMID: 9150164Free PMC Article

Therapy

SNP linkage analysis and whole exome sequencing identify a novel POU4F3 mutation in autosomal dominant late-onset nonsyndromic hearing loss (DFNA15).
Kim HJ, Won HH, Park KJ, Hong SH, Ki CS, Cho SS, Venselaar H, Vriend G, Kim JW
PLoS One 2013;8(11):e79063. Epub 2013 Nov 18 doi: 10.1371/journal.pone.0079063. PMID: 24260153Free PMC Article

Prognosis

Identification of a Novel Stop Loss Mutation in P2RX2 Gene in an Iranian Family with Autosomal Nonsyndromic Hearing Loss.
Azizi Malamiri R, Mohammadi Asl J, Ghanbari F
Iran Biomed J 2021 Sep 1;25(5):368-73. doi: 10.52547/ibj.25.5.368. [Epub ahead of print] PMID: 34425661Free PMC Article
Whole exome sequencing identifies SCD5 as a novel causative gene for autosomal dominant nonsyndromic deafness.
Lu X, Zhang Y, Chen L, Wang Q, Zeng Z, Dong C, Qi Y, Liu Y
Eur J Med Genet 2020 May;63(5):103855. Epub 2020 Jan 20 doi: 10.1016/j.ejmg.2020.103855. PMID: 31972369
A novel missense variant in the DIAPH1 gene in a Korean family with autosomal dominant nonsyndromic hearing loss.
Kang TH, Baek JI, Sagong B, Park HJ, Park CI, Lee KY, Kim UK
Genes Genet Syst 2017 Apr 4;91(5):289-292. Epub 2016 Dec 21 doi: 10.1266/ggs.16-00041. PMID: 28003573
Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).
Zhu M, Yang T, Wei S, DeWan AT, Morell RJ, Elfenbein JL, Fisher RA, Leal SM, Smith RJ, Friderici KH
Am J Hum Genet 2003 Nov;73(5):1082-91. Epub 2003 Sep 16 doi: 10.1086/379286. PMID: 13680526Free PMC Article
A gene for autosomal dominant nonsyndromic hearing loss (DFNA12) maps to chromosome 11q22-24.
Verhoeven K, Van Camp G, Govaerts PJ, Balemans W, Schatteman I, Verstreken M, Van Laer L, Smith RJ, Brown MR, Van de Heyning PH, Somers T, Offeciers FE, Willems PJ
Am J Hum Genet 1997 May;60(5):1168-73. PMID: 9150164Free PMC Article

Clinical prediction guides

Identification of a Novel Stop Loss Mutation in P2RX2 Gene in an Iranian Family with Autosomal Nonsyndromic Hearing Loss.
Azizi Malamiri R, Mohammadi Asl J, Ghanbari F
Iran Biomed J 2021 Sep 1;25(5):368-73. doi: 10.52547/ibj.25.5.368. [Epub ahead of print] PMID: 34425661Free PMC Article
Whole exome sequencing identifies SCD5 as a novel causative gene for autosomal dominant nonsyndromic deafness.
Lu X, Zhang Y, Chen L, Wang Q, Zeng Z, Dong C, Qi Y, Liu Y
Eur J Med Genet 2020 May;63(5):103855. Epub 2020 Jan 20 doi: 10.1016/j.ejmg.2020.103855. PMID: 31972369
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
A novel locus (DFNA23) for prelingual autosomal dominant nonsyndromic hearing loss maps to 14q21-q22 in a Swiss German kindred.
Salam AA, Häfner FM, Linder TE, Spillmann T, Schinzel AA, Leal SM
Am J Hum Genet 2000 Jun;66(6):1984-8. Epub 2000 Apr 24 doi: 10.1086/302931. PMID: 10777717Free PMC Article
A gene for autosomal dominant nonsyndromic hearing loss (DFNA12) maps to chromosome 11q22-24.
Verhoeven K, Van Camp G, Govaerts PJ, Balemans W, Schatteman I, Verstreken M, Van Laer L, Smith RJ, Brown MR, Van de Heyning PH, Somers T, Offeciers FE, Willems PJ
Am J Hum Genet 1997 May;60(5):1168-73. PMID: 9150164Free PMC Article

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