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Autosomal recessive nonsyndromic hearing loss 20(DFNB20)

MedGen UID:
347005
•Concept ID:
C1858840
•
Disease or Syndrome
Synonym: Deafness, autosomal recessive 20
 
Monarch Initiative: MONDO:0011392
OMIM®: 604060

Definition

An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 11q25-qter. [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
Hearing impairment
MedGen UID:
235586
•Concept ID:
C1384666
•
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
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
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
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
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
TMPRSS3 mutations in autosomal recessive nonsyndromic hearing loss.
Battelino S, Klancar G, Kovac J, Battelino T, Trebusak Podkrajsek K
Eur Arch Otorhinolaryngol 2016 May;273(5):1151-4. Epub 2015 Jun 3 doi: 10.1007/s00405-015-3671-0. PMID: 26036852

Diagnosis

Single gene variants causing deafness in Asian Indians.
Panigrahi I, Kumari D, Anil Kumar BN
J Genet 2021;100 PMID: 34238775
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
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
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
Genetics of Hearing Loss--Nonsyndromic.
Chang KW
Otolaryngol Clin North Am 2015 Dec;48(6):1063-72. Epub 2015 Aug 11 doi: 10.1016/j.otc.2015.06.005. PMID: 26275501

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

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
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: 23226338Free PMC Article

Clinical prediction guides

Elucidation of repeat motifs R1- and R2-related TRIOBP variants in autosomal recessive nonsyndromic hearing loss DFNB28 among indigenous South African individuals.
Kabahuma RI, Schubert WD, Labuschagne C, Yan D, Pepper MS, Liu XZ
Mol Genet Genomic Med 2022 Oct;10(10):e2015. Epub 2022 Aug 27 doi: 10.1002/mgg3.2015. PMID: 36029164Free PMC Article
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
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
Genetics of hearing loss in Africans: use of next generation sequencing is the best way forward.
Lebeko K, Bosch J, Noubiap JJ, Dandara C, Wonkam A
Pan Afr Med J 2015;20:383. Epub 2015 Apr 17 doi: 10.11604/pamj.2015.20.383.5230. PMID: 26185573Free 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: 23226338Free PMC Article

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