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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

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO15A gene. [from MONDO]

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
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
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
Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse.
Yousaf R, Gu C, Ahmed ZM, Khan SN, Friedman TB, Riazuddin S, Shears SB, Riazuddin S
PLoS Genet 2018 Mar;14(3):e1007297. Epub 2018 Mar 28 doi: 10.1371/journal.pgen.1007297. PMID: 29590114Free PMC Article
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

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
Identification of novel variants in MYO15A, OTOF, and RDX with hearing loss by next-generation sequencing.
Bai X, Nian S, Feng L, Ruan Q, Luo X, Wu M, Yan Z
Mol Genet Genomic Med 2019 Aug;7(8):e808. Epub 2019 Jun 28 doi: 10.1002/mgg3.808. PMID: 31250571Free PMC Article
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
Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5.
Seco CZ, Oonk AM, Domínguez-Ruiz M, Draaisma JM, Gandía M, Oostrik J, Neveling K, Kunst HP, Hoefsloot LH, del Castillo I, Pennings RJ, Kremer H, Admiraal RJ, Schraders M
Eur J Hum Genet 2015 Feb;23(2):189-94. Epub 2014 Apr 30 doi: 10.1038/ejhg.2014.83. PMID: 24781754Free PMC Article

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

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
Identification of TMC1 as a relatively common cause for nonsyndromic hearing loss in the Saudi population.
Ramzan K, Al-Owain M, Al-Numair NS, Afzal S, Al-Ageel S, Al-Amer S, Al-Baik L, Al-Otaibi GF, Hashem A, Al-Mashharawi E, Basit S, Al-Mazroea AH, Softah A, Sogaty S, Imtiaz F
Am J Med Genet B Neuropsychiatr Genet 2020 Apr;183(3):172-180. Epub 2019 Dec 19 doi: 10.1002/ajmg.b.32774. PMID: 31854501
Further evidence for loss-of-function mutations in the CEACAM16 gene causing nonsyndromic autosomal recessive hearing loss in humans.
Dias AMM, Lezirovitz K, Nicastro FS, Mendes BCA, Mingroni-Netto RC
J Hum Genet 2019 Mar;64(3):257-260. Epub 2018 Dec 4 doi: 10.1038/s10038-018-0546-4. PMID: 30514912
Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse.
Yousaf R, Gu C, Ahmed ZM, Khan SN, Friedman TB, Riazuddin S, Shears SB, Riazuddin S
PLoS Genet 2018 Mar;14(3):e1007297. Epub 2018 Mar 28 doi: 10.1371/journal.pgen.1007297. PMID: 29590114Free PMC Article

Clinical prediction guides

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
Further evidence for loss-of-function mutations in the CEACAM16 gene causing nonsyndromic autosomal recessive hearing loss in humans.
Dias AMM, Lezirovitz K, Nicastro FS, Mendes BCA, Mingroni-Netto RC
J Hum Genet 2019 Mar;64(3):257-260. Epub 2018 Dec 4 doi: 10.1038/s10038-018-0546-4. PMID: 30514912
Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5.
Seco CZ, Oonk AM, Domínguez-Ruiz M, Draaisma JM, Gandía M, Oostrik J, Neveling K, Kunst HP, Hoefsloot LH, del Castillo I, Pennings RJ, Kremer H, Admiraal RJ, Schraders M
Eur J Hum Genet 2015 Feb;23(2):189-94. Epub 2014 Apr 30 doi: 10.1038/ejhg.2014.83. PMID: 24781754Free PMC Article
The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3.
Ain Q, Nazli S, Riazuddin S, Jaleel AU, Riazuddin SA, Zafar AU, Khan SN, Husnain T, Griffith AJ, Ahmed ZM, Friedman TB, Riazuddin S
Hum Genet 2007 Dec;122(5):445-50. Epub 2007 Aug 10 doi: 10.1007/s00439-007-0418-z. PMID: 17690910

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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