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nonsyndromic sensorineural hearing loss

MedGen UID:
331223
•Concept ID:
C1842137
•
Finding
Synonyms: Autosomal dominant nonsyndromic hereditary hearing impairment; Nonsyndromic hereditary hearing impairment; Nonsyndromic sensorineural hearing loss

Professional guidelines

PubMed

Recessive LOXHD1 variants cause a prelingual down-sloping hearing loss: genotype-phenotype correlation and three additional children with novel variants.
Yu S, Chen WX, Zhang YF, Chen C, Ni Y, Duan B, Wang H, Xu ZM
Int J Pediatr Otorhinolaryngol 2021 Jun;145:110715. Epub 2021 Apr 20 doi: 10.1016/j.ijporl.2021.110715. PMID: 33892339
Unexpected heterogeneity due to recessive and de novo dominant mutations of GJB2 in an Iranian family with nonsyndromic hearing loss: implication for genetic counseling.
Mahdieh N, Shirkavand A, Raeisi M, Akbari MT, Tekin M, Zeinali S
Biochem Biophys Res Commun 2010 Nov 12;402(2):305-7. Epub 2010 Oct 19 doi: 10.1016/j.bbrc.2010.10.021. PMID: 20937258
GJB2 mutations and genotype-phenotype correlation in 335 patients from germany with nonsyndromic sensorineural hearing loss: evidence for additional recessive mutations not detected by current methods.
Bartsch O, Vatter A, Zechner U, Kohlschmidt N, Wetzig C, Baumgart A, Nospes S, Haaf T, Keilmann A
Audiol Neurootol 2010;15(6):375-82. Epub 2010 Mar 17 doi: 10.1159/000297216. PMID: 20234132

Recent clinical studies

Etiology

Phosphatidylinositol 4-kinase β mutations cause nonsyndromic sensorineural deafness and inner ear malformation.
Su X, Feng Y, Rahman SA, Wu S, Li G, Rüschendorf F, Zhao L, Cui H, Liang J, Fang L, Hu H, Froehler S, Yu Y, Patone G, Hummel O, Chen Q, Raile K, Luft FC, Bähring S, Hussain K, Chen W, Zhang J, Gong M
J Genet Genomics 2020 Oct 20;47(10):618-626. Epub 2020 Oct 28 doi: 10.1016/j.jgg.2020.07.008. PMID: 33358777
Association of TMTC2 With Human Nonsyndromic Sensorineural Hearing Loss.
Runge CL, Indap A, Zhou Y, Kent JW Jr, King E, Erbe CB, Cole R, Littrell J, Merath K, James R, Rüschendorf F, Kerschner JE, Marth G, Hübner N, Göring HH, Friedland DR, Kwok WM, Olivier M
JAMA Otolaryngol Head Neck Surg 2016 Sep 1;142(9):866-72. doi: 10.1001/jamaoto.2016.1444. PMID: 27311106Free PMC Article
Identification of both MT-RNR1 m.1555A>G and bi-allelic GJB2 mutations in probands with non-syndromic hearing loss.
Chai Y, Sun L, Pang X, Wang X, Chen D, Chen Y, Wu H, Yang T
Int J Pediatr Otorhinolaryngol 2014 Apr;78(4):614-7. Epub 2014 Jan 16 doi: 10.1016/j.ijporl.2014.01.011. PMID: 24507663
Etiologic diagnosis of nonsyndromic genetic hearing loss in adult vs pediatric populations.
King PJ, Ouyang X, Du L, Yan D, Angeli SI, Liu XZ
Otolaryngol Head Neck Surg 2012 Nov;147(5):932-6. Epub 2012 Jul 11 doi: 10.1177/0194599812453553. PMID: 22785241Free PMC Article
Apolipoprotein E alleles and sensorineural hearing loss.
O'Grady G, Boyles AL, Speer M, DeRuyter F, Strittmatter W, Worley G
Int J Audiol 2007 Apr;46(4):183-6. doi: 10.1080/14992020601145294. PMID: 17454231

Diagnosis

Diagnostic and therapeutic applications of genomic medicine in progressive, late-onset, nonsyndromic sensorineural hearing loss.
Jimenez JE, Nourbakhsh A, Colbert B, Mittal R, Yan D, Green CL, Nisenbaum E, Liu G, Bencie N, Rudman J, Blanton SH, Zhong Liu X
Gene 2020 Jul 15;747:144677. Epub 2020 Apr 15 doi: 10.1016/j.gene.2020.144677. PMID: 32304785Free PMC Article
Comprehensive molecular analysis of 61 Egyptian families with hereditary nonsyndromic hearing loss.
Budde BS, Aly MA, Mohamed MR, Breß A, Altmüller J, Motameny S, Kawalia A, Thiele H, Konrad K, Becker C, Toliat MR, Nürnberg G, Sayed EAF, Mohamed ES, Pfister M, Nürnberg P
Clin Genet 2020 Jul;98(1):32-42. Epub 2020 Apr 23 doi: 10.1111/cge.13754. PMID: 32279305
Etiologic diagnosis of nonsyndromic genetic hearing loss in adult vs pediatric populations.
King PJ, Ouyang X, Du L, Yan D, Angeli SI, Liu XZ
Otolaryngol Head Neck Surg 2012 Nov;147(5):932-6. Epub 2012 Jul 11 doi: 10.1177/0194599812453553. PMID: 22785241Free PMC Article
Etiology of syndromic and nonsyndromic sensorineural hearing loss.
Gürtler N, Lalwani AK
Otolaryngol Clin North Am 2002 Aug;35(4):891-908. doi: 10.1016/s0030-6665(02)00053-1. PMID: 12487088
GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review.
Kenneson A, Van Naarden Braun K, Boyle C
Genet Med 2002 Jul-Aug;4(4):258-74. doi: 10.1097/00125817-200207000-00004. PMID: 12172392

Therapy

Diagnostic and therapeutic applications of genomic medicine in progressive, late-onset, nonsyndromic sensorineural hearing loss.
Jimenez JE, Nourbakhsh A, Colbert B, Mittal R, Yan D, Green CL, Nisenbaum E, Liu G, Bencie N, Rudman J, Blanton SH, Zhong Liu X
Gene 2020 Jul 15;747:144677. Epub 2020 Apr 15 doi: 10.1016/j.gene.2020.144677. PMID: 32304785Free PMC Article
The contribution of the mitochondrial COI/tRNA(Ser(UCN)) gene mutations to non-syndromic and aminoglycoside-induced hearing loss in Polish patients.
Rydzanicz M, Cywińska K, Wróbel M, Pollak A, Gawęcki W, Wojsyk-Banaszak I, Lechowicz U, Mueller-Malesińska M, Ołdak M, Płoski R, Skarżyński H, Szyfter K, Szyfter W
Mol Genet Metab 2011 Sep-Oct;104(1-2):153-9. Epub 2011 May 13 doi: 10.1016/j.ymgme.2011.05.004. PMID: 21621438
C1494T mitochondrial DNA mutation, hearing loss, and aminoglycosides antibiotics.
Postal M, Palodeto B, Sartorato EL, Oliveira CA
Braz J Otorhinolaryngol 2009 Nov-Dec;75(6):884-7. doi: 10.1016/s1808-8694(15)30554-1. PMID: 20209292Free PMC Article
Audiological and genetic features of the mtDNA mutations.
Liu XZ, Angeli S, Ouyang XM, Liu W, Ke XM, Liu YH, Liu SX, Du LL, Deng XW, Yuan H, Yan D
Acta Otolaryngol 2008 Jul;128(7):732-8. doi: 10.1080/00016480701719011. PMID: 18568513Free PMC Article
Isepamicin sulfate-induced sensorineural hearing loss in patients with the 1555 A-->G mitochondrial mutation.
Usami S, Abe S, Tono T, Komune S, Kimberling WJ, Shinkawa H
ORL J Otorhinolaryngol Relat Spec 1998 May-Jun;60(3):164-9. doi: 10.1159/000027590. PMID: 9579362

Prognosis

PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss.
Redfield SE, De-la-Torre P, Zamani M, Wang H, Khan H, Morris T, Shariati G, Karimi M, Kenna MA, Seo GH, Xu H, Lu W, Naz S, Galehdari H, Indzhykulian AA, Shearer AE, Vona B
Hum Genet 2024 Mar;143(3):311-329. Epub 2024 Mar 9 doi: 10.1007/s00439-024-02649-2. PMID: 38459354Free PMC Article
Early audiological phenotype in patients with mutations in the USH2A gene.
Markova TG, Lalayants MR, Alekseeva NN, Ryzhkova OP, Shatokhina OL, Galeeva NM, Bliznetz EA, Weener ME, Belov OA, Chibisova SS, Polyakov AV, Tavartkiladze GA
Int J Pediatr Otorhinolaryngol 2022 Jun;157:111140. Epub 2022 Apr 15 doi: 10.1016/j.ijporl.2022.111140. PMID: 35452909
Evaluation of the pathogenicity of GJB3 and GJB6 variants associated with nonsyndromic hearing loss.
Oh SK, Choi SY, Yu SH, Lee KY, Hong JH, Hur SW, Kim SJ, Jeon CJ, Kim UK
Biochim Biophys Acta 2013 Jan;1832(1):285-91. Epub 2012 May 19 doi: 10.1016/j.bbadis.2012.05.009. PMID: 22617145
Autosomal dominant progressive sensorineural hearing loss due to a novel mutation in the KCNQ4 gene.
Arnett J, Emery SB, Kim TB, Boerst AK, Lee K, Leal SM, Lesperance MM
Arch Otolaryngol Head Neck Surg 2011 Jan;137(1):54-9. doi: 10.1001/archoto.2010.234. PMID: 21242547Free PMC Article
Phenotype of DFNA11: a nonsyndromic hearing loss caused by a myosin VIIA mutation.
Tamagawa Y, Ishikawa K, Ishikawa K, Ishida T, Kitamura K, Makino S, Tsuru T, Ichimura K
Laryngoscope 2002 Feb;112(2):292-7. doi: 10.1097/00005537-200202000-00017. PMID: 11889386

Clinical prediction guides

PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss.
Redfield SE, De-la-Torre P, Zamani M, Wang H, Khan H, Morris T, Shariati G, Karimi M, Kenna MA, Seo GH, Xu H, Lu W, Naz S, Galehdari H, Indzhykulian AA, Shearer AE, Vona B
Hum Genet 2024 Mar;143(3):311-329. Epub 2024 Mar 9 doi: 10.1007/s00439-024-02649-2. PMID: 38459354Free PMC Article
Cell death-inducing cytotoxicity in truncated KCNQ4 variants associated with DFNA2 hearing loss.
Kojima T, Wasano K, Takahashi S, Homma K
Dis Model Mech 2021 Nov 1;14(11) Epub 2021 Nov 26 doi: 10.1242/dmm.049015. PMID: 34622280Free PMC Article
Recurrent de novo WFS1 pathogenic variants in Chinese sporadic patients with nonsyndromic sensorineural hearing loss.
Guan J, Wang H, Lan L, Wu Y, Chen G, Zhao C, Wang D, Wang Q
Mol Genet Genomic Med 2020 Aug;8(8):e1367. Epub 2020 Jun 22 doi: 10.1002/mgg3.1367. PMID: 32567228Free PMC Article
Evaluation of the pathogenicity of GJB3 and GJB6 variants associated with nonsyndromic hearing loss.
Oh SK, Choi SY, Yu SH, Lee KY, Hong JH, Hur SW, Kim SJ, Jeon CJ, Kim UK
Biochim Biophys Acta 2013 Jan;1832(1):285-91. Epub 2012 May 19 doi: 10.1016/j.bbadis.2012.05.009. PMID: 22617145
Autosomal dominant progressive sensorineural hearing loss due to a novel mutation in the KCNQ4 gene.
Arnett J, Emery SB, Kim TB, Boerst AK, Lee K, Leal SM, Lesperance MM
Arch Otolaryngol Head Neck Surg 2011 Jan;137(1):54-9. doi: 10.1001/archoto.2010.234. PMID: 21242547Free PMC Article

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