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Autosomal recessive nonsyndromic hearing loss 15(DFNB15; DFNB72; DFNB95)

MedGen UID:: 355626
•Concept ID:: C1866094
•: Disease or Syndrome

Synonyms:	Deafness, autosomal recessive 15; DEAFNESS, AUTOSOMAL RECESSIVE 72; DEAFNESS, AUTOSOMAL RECESSIVE 95

Gene (location): Gene(s) directly associated with this condition or phenotype.	GIPC3 (19p13.3)

Monarch Initiative:	MONDO:0011160
OMIM®:	601869

Definition

This form of autosomal recessive deafness is sensorineural and nonsyndromic, and shows prelingual onset (summary by Charizopoulou et al., 2011). [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

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

Prelingual sensorineural hearing impairment

MedGen UID:: 867432
•Concept ID:: C4021806
•: Disease or Syndrome

A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech.

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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Abnormality of the eye
- Visual impairment
Ear malformation

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVHereditary hearing loss and deafness

Hereditary hearing loss and deafness
- Nonsyndromic genetic hearing loss
  - Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive
    - Autosomal recessive nonsyndromic hearing loss 15

Professional guidelines

PubMed

Addition of an affected family member to a previously ascertained autosomal recessive nonsyndromic hearing loss pedigree and systematic phenotype-genotype analysis of splice-site variants in MYO15A.

Yang JY, Wang WQ, Han MY, Huang SS, Wang GJ, Su Y, Xu JC, Fu Y, Kang DY, Yang K, Zhang X, Liu X, Gao X, Yuan YY, Dai P
BMC Med Genomics 2022 Nov 18;15(1):241. doi: 10.1186/s12920-022-01368-9. PMID: 36401330 Free PMC Article

See all (1)

Recent clinical studies

Etiology

Variations in the Mutational Spectrum in Nonsyndromic Hearing Impairment: A study of the Special Schools for the Deaf in Southern China.

Lin Y, Yu F, Jiao Y, Zhou F
J Int Adv Otol 2019 Aug;15(2):247-252. doi: 10.5152/iao.2019.6512. PMID: 31347505 Free PMC Article

GJB2 mutations causing autosomal recessive non-syndromic hearing loss (ARNSHL) in two Iranian populations: Report of two novel variants.

Koohiyan M, Hashemzadeh-Chaleshtori M, Salehi M, Abtahi H, Reiisi S, Pourreza MR, Noori-Daloii MR, Tabatabaiefar MA
Int J Pediatr Otorhinolaryngol 2018 Apr;107:121-126. Epub 2018 Jan 31 doi: 10.1016/j.ijporl.2018.01.012. PMID: 29501291

Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness.

Rehman AU, Bird JE, Faridi R, Shahzad M, Shah S, Lee K, Khan SN, Imtiaz A, Ahmed ZM, Riazuddin S, Santos-Cortez RL, Ahmad W, Leal SM, Riazuddin S, Friedman TB
Hum Mutat 2016 Oct;37(10):991-1003. Epub 2016 Aug 21 doi: 10.1002/humu.23042. PMID: 27375115 Free PMC Article

Connexin26 mutations associated with nonsyndromic hearing loss.

Park HJ, Hahn SH, Chun YM, Park K, Kim HN
Laryngoscope 2000 Sep;110(9):1535-8. doi: 10.1097/00005537-200009000-00023. PMID: 10983956

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

See all (9)

Diagnosis

Exome sequencing identifies novel variants associated with non-syndromic hearing loss in the Iranian population.

Vallian Broojeni J, Kazemi A, Rezaei H, Vallian S
PLoS One 2023;18(8):e0289247. Epub 2023 Aug 10 doi: 10.1371/journal.pone.0289247. PMID: 37561809 Free PMC Article

Leveraging Unique Chromosomal Microarray Probes to Accurately Detect Copy Number at the Highly Homologous 15q15.3 Deafness-Infertility Syndrome Locus.

Sack LM, Mertens L, Murphy E, Hutchinson L, Giersch ABS, Mason-Suares H
Clin Chem 2023 Jun 1;69(6):583-594. doi: 10.1093/clinchem/hvad032. PMID: 37022747

Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss.

Van Heurck R, Carminho-Rodrigues MT, Ranza E, Stafuzza C, Quteineh L, Gehrig C, Hammar E, Guipponi M, Abramowicz M, Senn P, Guinand N, Cao-Van H, Paoloni-Giacobino A
Genes (Basel) 2021 Aug 20;12(8) doi: 10.3390/genes12081277. PMID: 34440452 Free PMC Article

GJB2 mutations causing autosomal recessive non-syndromic hearing loss (ARNSHL) in two Iranian populations: Report of two novel variants.

Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss.

Atik T, Onay H, Aykut A, Bademci G, Kirazli T, Tekin M, Ozkinay F
PLoS One 2015;10(11):e0142154. Epub 2015 Nov 11 doi: 10.1371/journal.pone.0142154. PMID: 26561413 Free PMC Article

See all (13)

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: 33297549 Free PMC Article

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: 25390158 Free PMC Article

See all (2)

Prognosis

Novel MYO15A variants are associated with hearing loss in the two Iranian pedigrees.

Khatami S, Askari M, Bahreini F, Hashemzadeh-Chaleshtori M, Hematian S, Asgharzade S
BMC Med Genet 2020 Nov 18;21(1):226. doi: 10.1186/s12881-020-01168-x. PMID: 33208113 Free PMC Article

Functional characterization of a novel loss-of-function mutation of PRPS1 related to early-onset progressive nonsyndromic hearing loss in Koreans (DFNX1): Potential implications on future therapeutic intervention.

Kim SY, Kim AR, Kim NK, Lee C, Han JH, Kim MY, Jeon EH, Park WY, Mittal R, Yan D, Liu XZ, Choi BY
J Gene Med 2016 Nov;18(11-12):353-358. doi: 10.1002/jgm.2935. PMID: 27886419 Free PMC Article

Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss.

Diaz-Horta O, Duman D, Foster J 2nd, Sırmacı A, Gonzalez M, Mahdieh N, Fotouhi N, Bonyadi M, Cengiz FB, Menendez I, Ulloa RH, Edwards YJ, Züchner S, Blanton S, Tekin M
PLoS One 2012;7(11):e50628. Epub 2012 Nov 30 doi: 10.1371/journal.pone.0050628. PMID: 23226338 Free PMC Article

Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.

Riazuddin S, Belyantseva IA, Giese AP, Lee K, Indzhykulian AA, Nandamuri SP, Yousaf R, Sinha GP, Lee S, Terrell D, Hegde RS, Ali RA, Anwar S, Andrade-Elizondo PB, Sirmaci A, Parise LV, Basit S, Wali A, Ayub M, Ansar M, Ahmad W, Khan SN, Akram J, Tekin M, Riazuddin S, Cook T, Buschbeck EK, Frolenkov GI, Leal SM, Friedman TB, Ahmed ZM
Nat Genet 2012 Nov;44(11):1265-71. Epub 2012 Sep 30 doi: 10.1038/ng.2426. PMID: 23023331 Free PMC Article

Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss.

Shearer AE, Hildebrand MS, Webster JA, Kahrizi K, Meyer NC, Jalalvand K, Arzhanginy S, Kimberling WJ, Stephan D, Bahlo M, Smith RJ, Najmabadi H
Laryngoscope 2009 Apr;119(4):727-33. doi: 10.1002/lary.20116. PMID: 19274735 Free PMC Article

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Clinical prediction guides

Novel MYO15A variants are associated with hearing loss in the two Iranian pedigrees.

Khatami S, Askari M, Bahreini F, Hashemzadeh-Chaleshtori M, Hematian S, Asgharzade S
BMC Med Genet 2020 Nov 18;21(1):226. doi: 10.1186/s12881-020-01168-x. PMID: 33208113 Free PMC Article

GJB2 mutations causing autosomal recessive non-syndromic hearing loss (ARNSHL) in two Iranian populations: Report of two novel variants.

Kim SY, Kim AR, Kim NK, Lee C, Han JH, Kim MY, Jeon EH, Park WY, Mittal R, Yan D, Liu XZ, Choi BY
J Gene Med 2016 Nov;18(11-12):353-358. doi: 10.1002/jgm.2935. PMID: 27886419 Free PMC Article

Identification of a founder mutation for Pendred syndrome in families from northwest Iran.

Mohseni M, Honarpour A, Mozafari R, Davarnia B, Najmabadi H, Kahrizi K
Int J Pediatr Otorhinolaryngol 2014 Nov;78(11):1828-32. Epub 2014 Sep 1 doi: 10.1016/j.ijporl.2014.08.035. PMID: 25239229

Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss.

See all (16)

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Links from Gene

Autosomal recessive nonsyndromic hearing loss 15(DFNB15; DFNB72; DFNB95)

Definition

Clinical features

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Molecular resources

Consumer resources

Reviews

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