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Autosomal recessive nonsyndromic hearing loss 2(DFNB2; NSRD2)

MedGen UID:
325485
•Concept ID:
C1838701
•
Disease or Syndrome
Synonyms: Deafness, autosomal recessive 2; DFNB 2 Nonsyndromic Hearing Loss and Deafness; NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 2
 
Gene (location): MYO7A (11q13.5)
 
Monarch Initiative: MONDO:0010807
OMIM®: 600060

Definition

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO7A gene. [from MONDO]

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
Vertigo
MedGen UID:
53006
•Concept ID:
C0042571
•
Sign or Symptom
An abnormal sensation of spinning while the body is actually stationary.
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

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Noninvasive Prenatal Diagnosis of Single-Gene Disorders by Use of Droplet Digital PCR.
Camunas-Soler J, Lee H, Hudgins L, Hintz SR, Blumenfeld YJ, El-Sayed YY, Quake SR
Clin Chem 2018 Feb;64(2):336-345. Epub 2017 Nov 2 doi: 10.1373/clinchem.2017.278101. PMID: 29097507
Unexpected heterogeneity due to recessive and de novo dominant mutations of GJB2 in an Iranian family with nonsyndromic hearing loss: implication for genetic counseling.
Mahdieh N, Shirkavand A, Raeisi M, Akbari MT, Tekin M, Zeinali S
Biochem Biophys Res Commun 2010 Nov 12;402(2):305-7. Epub 2010 Oct 19 doi: 10.1016/j.bbrc.2010.10.021. PMID: 20937258
Prevalence of GJB2 (connexin-26) and GJB6 (connexin-30) mutations in a cohort of 300 Brazilian hearing-impaired individuals: implications for diagnosis and genetic counseling.
Batissoco AC, Abreu-Silva RS, Braga MC, Lezirovitz K, Della-Rosa V, Alfredo T Jr, Otto PA, Mingroni-Netto RC
Ear Hear 2009 Feb;30(1):1-7. doi: 10.1097/AUD.0b013e31819144ad. PMID: 19125024

Recent clinical studies

Etiology

Biallelic mutations in pakistani families with autosomal recessive prelingual nonsyndromic hearing loss.
Choi HJ, Kanwal S, Hameed R, Tamanna N, Perveen S, Mahreen H, Son W, Lee KS, Chung KW
Genes Genomics 2023 Feb;45(2):145-156. Epub 2022 Dec 6 doi: 10.1007/s13258-022-01349-3. PMID: 36472766
Non-Syndromic Hearing Loss in a Romanian Population: Carrier Status and Frequent Variants in the GJB2 Gene.
Riza AL, Alkhzouz C, Farcaș M, Pîrvu A, Miclea D, Mihuț G, Pleșea RM, Ștefan D, Drodar M, Lazăr C, On Behalf Of The Hint Study, On Behalf Of The Fuse Study, Ioana M, Popp R
Genes (Basel) 2022 Dec 26;14(1) doi: 10.3390/genes14010069. PMID: 36672810Free PMC Article
GJB2-related hearing loss in central Iran: Review of the spectrum and frequency of gene mutations.
Koohiyan M, Koohian F, Azadegan-Dehkordi F
Ann Hum Genet 2020 Mar;84(2):107-113. Epub 2019 Sep 11 doi: 10.1111/ahg.12354. PMID: 31512227
Comprehensive Molecular Screening in Chinese Usher Syndrome Patients.
Sun T, Xu K, Ren Y, Xie Y, Zhang X, Tian L, Li Y
Invest Ophthalmol Vis Sci 2018 Mar 1;59(3):1229-1237. doi: 10.1167/iovs.17-23312. PMID: 29625443
TMPRSS3 mutations in autosomal recessive nonsyndromic hearing loss.
Battelino S, Klancar G, Kovac J, Battelino T, Trebusak Podkrajsek K
Eur Arch Otorhinolaryngol 2016 May;273(5):1151-4. Epub 2015 Jun 3 doi: 10.1007/s00405-015-3671-0. PMID: 26036852

Diagnosis

Novel compound heterozygous MYO15A splicing variants in autosomal recessive non-syndromic hearing loss.
Zheng K, Lin S, Gao J, Chen S, Su J, Liu Z, Duan S
BMC Med Genomics 2024 Jan 2;17(1):4. doi: 10.1186/s12920-023-01777-4. PMID: 38167320Free PMC Article
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
Comprehensive Molecular Screening in Chinese Usher Syndrome Patients.
Sun T, Xu K, Ren Y, Xie Y, Zhang X, Tian L, Li Y
Invest Ophthalmol Vis Sci 2018 Mar 1;59(3):1229-1237. doi: 10.1167/iovs.17-23312. PMID: 29625443
KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects.
Zhao J, Yuan Y, Huang S, Huang B, Cheng J, Kang D, Wang G, Han D, Dai P
PLoS One 2014;9(11):e108134. Epub 2014 Nov 5 doi: 10.1371/journal.pone.0108134. PMID: 25372295Free PMC Article
Mitochondrial disorders.
Zeviani M, Tiranti V, Piantadosi C
Medicine (Baltimore) 1998 Jan;77(1):59-72. doi: 10.1097/00005792-199801000-00006. PMID: 9465864

Therapy

Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice.
García-García G, Berzal-Serrano A, García-Díaz P, Villanova-Aparisi R, Juárez-Rodríguez S, de Paula-Vernetta C, Cavallé-Garrido L, Jaijo T, Armengot-Carceller M, Millán JM, Aller E
Genes (Basel) 2020 Dec 7;11(12) doi: 10.3390/genes11121467. PMID: 33297549Free PMC Article
Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing loss.
Bademci G, Diaz-Horta O, Guo S, Duman D, Van Booven D, Foster J 2nd, Cengiz FB, Blanton S, Tekin M
Genet Test Mol Biomarkers 2014 Sep;18(9):658-61. Epub 2014 Jul 25 doi: 10.1089/gtmb.2014.0121. PMID: 25062256Free PMC Article

Prognosis

Novel compound heterozygous MYO15A splicing variants in autosomal recessive non-syndromic hearing loss.
Zheng K, Lin S, Gao J, Chen S, Su J, Liu Z, Duan S
BMC Med Genomics 2024 Jan 2;17(1):4. doi: 10.1186/s12920-023-01777-4. PMID: 38167320Free PMC Article
Biallelic mutations in pakistani families with autosomal recessive prelingual nonsyndromic hearing loss.
Choi HJ, Kanwal S, Hameed R, Tamanna N, Perveen S, Mahreen H, Son W, Lee KS, Chung KW
Genes Genomics 2023 Feb;45(2):145-156. Epub 2022 Dec 6 doi: 10.1007/s13258-022-01349-3. PMID: 36472766
Homozygous mutations in Pakistani consanguineous families with prelingual nonsyndromic hearing loss.
Park HR, Kanwal S, Lim SO, Nam DE, Choi YJ, Chung KW
Mol Biol Rep 2020 Dec;47(12):9979-9985. Epub 2020 Dec 2 doi: 10.1007/s11033-020-06037-7. PMID: 33269433
A novel missense mutation in the SLC26A4 gene causes nonsyndromic hearing loss and enlarged vestibular aqueduct.
He X, Peng Q, Li S, Zhu P, Wu C, Rao C, Chang J, Xie M, Zhong B, Lu X
Int J Pediatr Otorhinolaryngol 2017 Apr;95:104-108. Epub 2017 Feb 14 doi: 10.1016/j.ijporl.2017.02.013. PMID: 28576516
Identification of a Novel MYO15A Mutation in a Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss.
Xia H, Huang X, Guo Y, Hu P, He G, Deng X, Xu H, Yang Z, Deng H
PLoS One 2015;10(8):e0136306. Epub 2015 Aug 26 doi: 10.1371/journal.pone.0136306. PMID: 26308726Free PMC Article

Clinical prediction guides

Novel compound heterozygous MYO15A splicing variants in autosomal recessive non-syndromic hearing loss.
Zheng K, Lin S, Gao J, Chen S, Su J, Liu Z, Duan S
BMC Med Genomics 2024 Jan 2;17(1):4. doi: 10.1186/s12920-023-01777-4. PMID: 38167320Free PMC Article
Biallelic mutations in pakistani families with autosomal recessive prelingual nonsyndromic hearing loss.
Choi HJ, Kanwal S, Hameed R, Tamanna N, Perveen S, Mahreen H, Son W, Lee KS, Chung KW
Genes Genomics 2023 Feb;45(2):145-156. Epub 2022 Dec 6 doi: 10.1007/s13258-022-01349-3. PMID: 36472766
Elucidation of repeat motifs R1- and R2-related TRIOBP variants in autosomal recessive nonsyndromic hearing loss DFNB28 among indigenous South African individuals.
Kabahuma RI, Schubert WD, Labuschagne C, Yan D, Pepper MS, Liu XZ
Mol Genet Genomic Med 2022 Oct;10(10):e2015. Epub 2022 Aug 27 doi: 10.1002/mgg3.2015. PMID: 36029164Free PMC Article
Homozygous mutations in Pakistani consanguineous families with prelingual nonsyndromic hearing loss.
Park HR, Kanwal S, Lim SO, Nam DE, Choi YJ, Chung KW
Mol Biol Rep 2020 Dec;47(12):9979-9985. Epub 2020 Dec 2 doi: 10.1007/s11033-020-06037-7. PMID: 33269433
An autosomal recessive nonsyndromic-hearing-loss locus identified by DNA pooling using two inbred Bedouin kindreds.
Scott DA, Carmi R, Elbedour K, Yosefsberg S, Stone EM, Sheffield VC
Am J Hum Genet 1996 Aug;59(2):385-91. PMID: 8755925Free PMC Article

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    • ClinVar
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      Clinical tests in GTR
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