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Autosomal recessive nonsyndromic hearing loss 24(DFNB24)

MedGen UID:
370208
•Concept ID:
C1970239
•
Disease or Syndrome
Synonyms: Deafness, autosomal recessive 24; DFNB24 Nonsyndromic Hearing Loss and Deafness
 
Gene (location): RDX (11q22.3)
 
Monarch Initiative: MONDO:0012602
OMIM®: 611022

Definition

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

Recent clinical studies

Etiology

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
Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1).
Cohn ES, Kelley PM, Fowler TW, Gorga MP, Lefkowitz DM, Kuehn HJ, Schaefer GB, Gobar LS, Hahn FJ, Harris DJ, Kimberling WJ
Pediatrics 1999 Mar;103(3):546-50. doi: 10.1542/peds.103.3.546. PMID: 10049954

Diagnosis

Genetic Etiology of Nonsyndromic Hearing Loss in Hungarian Patients.
Pál M, Nagy D, Neller A, Farkas K, Leprán-Török D, Nagy N, Füstös D, Nagy R, Németh A, Szilvássy J, Rovó L, Kiss JG, Széll M
Int J Mol Sci 2023 Apr 17;24(8) doi: 10.3390/ijms24087401. PMID: 37108562Free PMC Article
Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.
Yang G, Yin Y, Tan Z, Liu J, Deng X, Yang Y
BMC Med Genomics 2021 Jan 21;14(1):24. doi: 10.1186/s12920-021-00871-9. PMID: 33478437Free PMC Article
A Novel Pathogenic Variant in the CABP2 Gene Causes Severe Nonsyndromic Hearing Loss in a Consanguineous Iranian Family.
Koohiyan M, Noori-Daloii MR, Hashemzadeh-Chaleshtori M, Salehi M, Abtahi H, Tabatabaiefar MA
Audiol Neurootol 2019;24(5):258-263. Epub 2019 Oct 29 doi: 10.1159/000502251. PMID: 31661684
Identification and Clinical Implications of a Novel MYO15A Variant in a Consanguineous Iranian Family by Targeted Exome Sequencing.
Zarepour N, Koohiyan M, Taghipour-Sheshdeh A, Nemati-Zargaran F, Saki N, Mohammadi-Asl J, Tabatabaiefar MA, Hashemzadeh-Chaleshtori M
Audiol Neurootol 2019;24(1):25-31. Epub 2019 Apr 3 doi: 10.1159/000498843. PMID: 30943474
Prevalence of GJB2 Mutations in Affected Individuals from United Arab Emirates with Autosomal Recessive Nonsyndromic Hearing Loss.
Tlili A, Al Mutery A, Kamal Eddine Ahmad Mohamed W, Mahfood M, Hadj Kacem H
Genet Test Mol Biomarkers 2017 Nov;21(11):686-691. Epub 2017 Oct 10 doi: 10.1089/gtmb.2017.0130. PMID: 29016196

Therapy

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

Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.
Yang G, Yin Y, Tan Z, Liu J, Deng X, Yang Y
BMC Med Genomics 2021 Jan 21;14(1):24. doi: 10.1186/s12920-021-00871-9. PMID: 33478437Free 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
A gene for autosomal dominant nonsyndromic hearing loss (DFNA12) maps to chromosome 11q22-24.
Verhoeven K, Van Camp G, Govaerts PJ, Balemans W, Schatteman I, Verstreken M, Van Laer L, Smith RJ, Brown MR, Van de Heyning PH, Somers T, Offeciers FE, Willems PJ
Am J Hum Genet 1997 May;60(5):1168-73. PMID: 9150164Free PMC Article
Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3.
Bonné-Tamir B, DeStefano AL, Briggs CE, Adair R, Franklyn B, Weiss S, Korostishevsky M, Frydman M, Baldwin CT, Farrer LA
Am J Hum Genet 1996 Jun;58(6):1254-9. PMID: 8651303Free PMC Article

Clinical prediction guides

Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.
Yang G, Yin Y, Tan Z, Liu J, Deng X, Yang Y
BMC Med Genomics 2021 Jan 21;14(1):24. doi: 10.1186/s12920-021-00871-9. PMID: 33478437Free 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
Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1).
Cohn ES, Kelley PM, Fowler TW, Gorga MP, Lefkowitz DM, Kuehn HJ, Schaefer GB, Gobar LS, Hahn FJ, Harris DJ, Kimberling WJ
Pediatrics 1999 Mar;103(3):546-50. doi: 10.1542/peds.103.3.546. PMID: 10049954
Localization of a novel gene for nonsyndromic hearing loss (DFNB17) to chromosome region 7q31.
Greinwald JH Jr, Wayne S, Chen AH, Scott DA, Zbar RI, Kraft ML, Prasad S, Ramesh A, Coucke P, Srisailapathy CR, Lovett M, Van Camp G, Smith RJ
Am J Med Genet 1998 Jun 30;78(2):107-13. PMID: 9674898
A gene for autosomal dominant nonsyndromic hearing loss (DFNA12) maps to chromosome 11q22-24.
Verhoeven K, Van Camp G, Govaerts PJ, Balemans W, Schatteman I, Verstreken M, Van Laer L, Smith RJ, Brown MR, Van de Heyning PH, Somers T, Offeciers FE, Willems PJ
Am J Hum Genet 1997 May;60(5):1168-73. PMID: 9150164Free PMC Article

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