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Autosomal recessive nonsyndromic hearing loss 42(DFNB42)

MedGen UID:
351225
•Concept ID:
C1864818
•
Disease or Syndrome
Synonym: Deafness, autosomal recessive 42
 
Gene (location): ILDR1 (3q13.33)
 
Monarch Initiative: MONDO:0012326
OMIM®: 609646

Definition

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ILDR1 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

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

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
A quantitative cSMART assay for noninvasive prenatal screening of autosomal recessive nonsyndromic hearing loss caused by GJB2 and SLC26A4 mutations.
Han M, Li Z, Wang W, Huang S, Lu Y, Gao Z, Wang L, Kang D, Li L, Liu Y, Xu M, Cram DS, Dai P
Genet Med 2017 Dec;19(12):1309-1316. Epub 2017 May 25 doi: 10.1038/gim.2017.54. PMID: 28541280
Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.
Shearer AE, Eppsteiner RW, Booth KT, Ephraim SS, Gurrola J 2nd, Simpson A, Black-Ziegelbein EA, Joshi S, Ravi H, Giuffre AC, Happe S, Hildebrand MS, Azaiez H, Bayazit YA, Erdal ME, Lopez-Escamez JA, Gazquez I, Tamayo ML, Gelvez NY, Leal GL, Jalas C, Ekstein J, Yang T, Usami S, Kahrizi K, Bazazzadegan N, Najmabadi H, Scheetz TE, Braun TA, Casavant TL, LeProust EM, Smith RJ
Am J Hum Genet 2014 Oct 2;95(4):445-53. Epub 2014 Sep 25 doi: 10.1016/j.ajhg.2014.09.001. PMID: 25262649Free PMC Article
Hair phenotype in non-syndromic deafness.
Volo T, Sathiyaseelan T, Astolfi L, Guaran V, Trevisi P, Emanuelli E, Martini A
Int J Pediatr Otorhinolaryngol 2013 Aug;77(8):1280-5. Epub 2013 Jun 14 doi: 10.1016/j.ijporl.2013.05.010. PMID: 23751281
Autosomal recessive and sporadic deafness in Morocco: high frequency of the 35delG GJB2 mutation and absence of the 342-kb GJB6 variant.
Gazzaz B, Weil D, Raïs L, Akhyat O, Azeddoug H, Nadifi S
Hear Res 2005 Dec;210(1-2):80-4. Epub 2005 Oct 21 doi: 10.1016/j.heares.2005.08.001. PMID: 16243461

Diagnosis

Loss-of-function mutations in MYO15A and OTOF cause non-syndromic hearing loss in two Yemeni families.
Asaad M, Mahfood M, Al Mutery A, Tlili A
Hum Genomics 2023 May 15;17(1):42. doi: 10.1186/s40246-023-00489-1. PMID: 37189200Free 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
A quantitative cSMART assay for noninvasive prenatal screening of autosomal recessive nonsyndromic hearing loss caused by GJB2 and SLC26A4 mutations.
Han M, Li Z, Wang W, Huang S, Lu Y, Gao Z, Wang L, Kang D, Li L, Liu Y, Xu M, Cram DS, Dai P
Genet Med 2017 Dec;19(12):1309-1316. Epub 2017 May 25 doi: 10.1038/gim.2017.54. PMID: 28541280
Update of the spectrum of GJB2 gene mutations in 152 Moroccan families with autosomal recessive nonsyndromic hearing loss.
Bakhchane A, Bousfiha A, Charoute H, Salime S, Detsouli M, Snoussi K, Nadifi S, Kabine M, Rouba H, Dehbi H, Roky R, Charif M, Barakat A
Eur J Med Genet 2016 Jun;59(6-7):325-9. Epub 2016 May 8 doi: 10.1016/j.ejmg.2016.05.002. PMID: 27169813
Autosomal recessive and sporadic deafness in Morocco: high frequency of the 35delG GJB2 mutation and absence of the 342-kb GJB6 variant.
Gazzaz B, Weil D, Raïs L, Akhyat O, Azeddoug H, Nadifi S
Hear Res 2005 Dec;210(1-2):80-4. Epub 2005 Oct 21 doi: 10.1016/j.heares.2005.08.001. PMID: 16243461

Prognosis

Loss-of-function mutations in MYO15A and OTOF cause non-syndromic hearing loss in two Yemeni families.
Asaad M, Mahfood M, Al Mutery A, Tlili A
Hum Genomics 2023 May 15;17(1):42. doi: 10.1186/s40246-023-00489-1. PMID: 37189200Free 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: 27886419Free PMC Article
Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss.
Li Y, Pohl E, Boulouiz R, Schraders M, Nürnberg G, Charif M, Admiraal RJ, von Ameln S, Baessmann I, Kandil M, Veltman JA, Nürnberg P, Kubisch C, Barakat A, Kremer H, Wollnik B
Am J Hum Genet 2010 Mar 12;86(3):479-84. Epub 2010 Feb 18 doi: 10.1016/j.ajhg.2010.02.003. PMID: 20170898Free PMC Article

Clinical prediction guides

Loss-of-function mutations in MYO15A and OTOF cause non-syndromic hearing loss in two Yemeni families.
Asaad M, Mahfood M, Al Mutery A, Tlili A
Hum Genomics 2023 May 15;17(1):42. doi: 10.1186/s40246-023-00489-1. PMID: 37189200Free 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: 27886419Free PMC Article
Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss.
Li Y, Pohl E, Boulouiz R, Schraders M, Nürnberg G, Charif M, Admiraal RJ, von Ameln S, Baessmann I, Kandil M, Veltman JA, Nürnberg P, Kubisch C, Barakat A, Kremer H, Wollnik B
Am J Hum Genet 2010 Mar 12;86(3):479-84. Epub 2010 Feb 18 doi: 10.1016/j.ajhg.2010.02.003. PMID: 20170898Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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