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Autosomal recessive nonsyndromic hearing loss 3(DFNB3; NSRD3)

MedGen UID:
325373
•Concept ID:
C1838263
•
Disease or Syndrome
Synonyms: Deafness, autosomal recessive 3; DFNB 3 Nonsyndromic Hearing Loss and Deafness; NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 3
 
Gene (location): MYO15A (17p11.2)
 
Monarch Initiative: MONDO:0010860
OMIM®: 600316

Definition

Autosomal recessive deafness-3 (DFNB3) is a congenital, profound, neurosensory deafness. There are no apparent vestibular abnormalities or dysmorphic features (Friedman et al., 1995). [from OMIM]

Clinical features

From HPO
Profound sensorineural hearing impairment
MedGen UID:
868926
•Concept ID:
C4023338
•
Disease or Syndrome
Complete loss of hearing related to a sensorineural defect.
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
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
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
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
Genotyping data and novel haplotype diversity of STR markers in the SLC26A4 gene region in five ethnic groups of the Iranian population.
Mojtabavi Naeini M, Mesrian Tanha H, Hashemzadeh Chaleshtori M, Vallian S
Genet Test Mol Biomarkers 2014 Dec;18(12):820-5. doi: 10.1089/gtmb.2014.0178. PMID: 25390158Free PMC Article
Genotypic and phenotypic correlations of DFNB1-related hearing impairment in the Midwestern United States.
Lim LH, Bradshaw JK, Guo Y, Pilipenko V, Madden C, Ingala D, Keddache M, Choo DI, Wenstrup R, Greinwald JH Jr
Arch Otolaryngol Head Neck Surg 2003 Aug;129(8):836-40. doi: 10.1001/archotol.129.8.836. PMID: 12925341

Diagnosis

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
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
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
DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System.
Sommen M, Schrauwen I, Vandeweyer G, Boeckx N, Corneveaux JJ, van den Ende J, Boudewyns A, De Leenheer E, Janssens S, Claes K, Verstreken M, Strenzke N, Predöhl F, Wuyts W, Mortier G, Bitner-Glindzicz M, Moser T, Coucke P, Huentelman MJ, Van Camp G
Hum Mutat 2016 Aug;37(8):812-9. Epub 2016 May 6 doi: 10.1002/humu.22999. PMID: 27068579
Genotypic and phenotypic correlations of DFNB1-related hearing impairment in the Midwestern United States.
Lim LH, Bradshaw JK, Guo Y, Pilipenko V, Madden C, Ingala D, Keddache M, Choo DI, Wenstrup R, Greinwald JH Jr
Arch Otolaryngol Head Neck Surg 2003 Aug;129(8):836-40. doi: 10.1001/archotol.129.8.836. PMID: 12925341

Therapy

Genotyping data and novel haplotype diversity of STR markers in the SLC26A4 gene region in five ethnic groups of the Iranian population.
Mojtabavi Naeini M, Mesrian Tanha H, Hashemzadeh Chaleshtori M, Vallian S
Genet Test Mol Biomarkers 2014 Dec;18(12):820-5. doi: 10.1089/gtmb.2014.0178. PMID: 25390158Free PMC Article

Prognosis

Heterozygous variants in transmembrane channel-like 1 gene cause autosomal recessive nonsyndromic hearing loss.
Zhang L, Zhu Q, Wu Y, Shi P
Cell Mol Biol (Noisy-le-grand) 2024 Jul 28;70(7):134-142. doi: 10.14715/cmb/2024.70.7.19. PMID: 39097884
PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss.
Redfield SE, De-la-Torre P, Zamani M, Wang H, Khan H, Morris T, Shariati G, Karimi M, Kenna MA, Seo GH, Xu H, Lu W, Naz S, Galehdari H, Indzhykulian AA, Shearer AE, Vona B
Hum Genet 2024 Mar;143(3):311-329. Epub 2024 Mar 9 doi: 10.1007/s00439-024-02649-2. PMID: 38459354Free PMC Article
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
WFS1 autosomal dominant variants linked with hearing loss: update on structural analysis and cochlear implant outcome.
Lim HD, Lee SM, Yun YJ, Lee DH, Lee JH, Oh SH, Lee SY
BMC Med Genomics 2023 Apr 11;16(1):79. doi: 10.1186/s12920-023-01506-x. PMID: 37041640Free 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

Clinical prediction guides

PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss.
Redfield SE, De-la-Torre P, Zamani M, Wang H, Khan H, Morris T, Shariati G, Karimi M, Kenna MA, Seo GH, Xu H, Lu W, Naz S, Galehdari H, Indzhykulian AA, Shearer AE, Vona B
Hum Genet 2024 Mar;143(3):311-329. Epub 2024 Mar 9 doi: 10.1007/s00439-024-02649-2. PMID: 38459354Free PMC Article
WFS1 autosomal dominant variants linked with hearing loss: update on structural analysis and cochlear implant outcome.
Lim HD, Lee SM, Yun YJ, Lee DH, Lee JH, Oh SH, Lee SY
BMC Med Genomics 2023 Apr 11;16(1):79. doi: 10.1186/s12920-023-01506-x. PMID: 37041640Free 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
A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1.
Ramzan K, Shaikh RS, Ahmad J, Khan SN, Riazuddin S, Ahmed ZM, Friedman TB, Wilcox ER, Riazuddin S
Hum Genet 2005 Jan;116(1-2):17-22. Epub 2004 Nov 6 doi: 10.1007/s00439-004-1205-8. PMID: 15538632
Genotypic and phenotypic correlations of DFNB1-related hearing impairment in the Midwestern United States.
Lim LH, Bradshaw JK, Guo Y, Pilipenko V, Madden C, Ingala D, Keddache M, Choo DI, Wenstrup R, Greinwald JH Jr
Arch Otolaryngol Head Neck Surg 2003 Aug;129(8):836-40. doi: 10.1001/archotol.129.8.836. PMID: 12925341

Recent systematic reviews

WFS1 autosomal dominant variants linked with hearing loss: update on structural analysis and cochlear implant outcome.
Lim HD, Lee SM, Yun YJ, Lee DH, Lee JH, Oh SH, Lee SY
BMC Med Genomics 2023 Apr 11;16(1):79. doi: 10.1186/s12920-023-01506-x. PMID: 37041640Free PMC Article

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