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Recessive sensorineural hearing loss

MedGen UID:
583183
•Concept ID:
C0395973
•
Disease or Syndrome
SNOMED CT: Recessive sensorineural hearing loss (232330007)

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: 36401330Free PMC Article
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

Recent clinical studies

Etiology

Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.
Shen J, Oza AM, Del Castillo I, Duzkale H, Matsunaga T, Pandya A, Kang HP, Mar-Heyming R, Guha S, Moyer K, Lo C, Kenna M, Alexander JJ, Zhang Y, Hirsch Y, Luo M, Cao Y, Wai Choy K, Cheng YF, Avraham KB, Hu X, Garrido G, Moreno-Pelayo MA, Greinwald J, Zhang K, Zeng Y, Brownstein Z, Basel-Salmon L, Davidov B, Frydman M, Weiden T, Nagan N, Willis A, Hemphill SE, Grant AR, Siegert RK, DiStefano MT, Amr SS, Rehm HL, Abou Tayoun AN; ClinGen Hearing Loss Working Group
Genet Med 2019 Nov;21(11):2442-2452. Epub 2019 Jun 4 doi: 10.1038/s41436-019-0535-9. PMID: 31160754Free PMC Article
Strong founder effect of p.P240L in CDH23 in Koreans and its significant contribution to severe-to-profound nonsyndromic hearing loss in a Korean pediatric population.
Kim SY, Kim AR, Kim NK, Kim MY, Jeon EH, Kim BJ, Han YE, Chang MY, Park WY, Choi BY
J Transl Med 2015 Aug 13;13:263. doi: 10.1186/s12967-015-0624-8. PMID: 26264712Free PMC Article
Clinical course of hearing and language development in GJB2 and non-GJB2 deafness following habilitation with hearing aids.
Matsunaga T, Hirota E, Bito S, Niimi S, Usami S
Audiol Neurootol 2006;11(1):59-68. Epub 2005 Nov 9 doi: 10.1159/000089607. PMID: 16282682
Connexin mutation testing of children with nonsyndromic, autosomal recessive sensorineural hearing loss.
Thomas MA, Der Kaloustian VM, Tewfik TL
J Otolaryngol 2004 Jun;33(3):189-92. doi: 10.2310/7070.2004.00189. PMID: 15841999

Diagnosis

A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans.
Vona B, Mazaheri N, Lin SJ, Dunbar LA, Maroofian R, Azaiez H, Booth KT, Vitry S, Rad A, Rüschendorf F, Varshney P, Fowler B, Beetz C, Alagramam KN, Murphy D, Shariati G, Sedaghat A, Houlden H, Petree C, VijayKumar S, Smith RJH, Haaf T, El-Amraoui A, Bowl MR, Varshney GK, Galehdari H
Hum Genet 2021 Jun;140(6):915-931. Epub 2021 Jan 26 doi: 10.1007/s00439-020-02254-z. PMID: 33496845Free PMC Article
OTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patients.
Iwasa YI, Nishio SY, Sugaya A, Kataoka Y, Kanda Y, Taniguchi M, Nagai K, Naito Y, Ikezono T, Horie R, Sakurai Y, Matsuoka R, Takeda H, Abe S, Kihara C, Ishino T, Morita SY, Iwasaki S, Takahashi M, Ito T, Arai Y, Usami SI
PLoS One 2019;14(5):e0215932. Epub 2019 May 16 doi: 10.1371/journal.pone.0215932. PMID: 31095577Free PMC Article
Identification of a p.R143Q dominant mutation in the gap junction beta-2 gene in three Chinese patients with different hearing phenotypes.
Huang S, Wang G, Xu Y, Yuan Y, Han D, Dai P
Acta Otolaryngol 2013 Jan;133(1):55-8. Epub 2012 Sep 19 doi: 10.3109/00016489.2012.715373. PMID: 22991996
De novo dominant mutation of GJB2 in two Chinese families with nonsyndromic hearing loss.
Huang S, Yuan Y, Liu J, Han D, Kang D, Zhang X, Dong M, Yan X, Dai P
Int J Pediatr Otorhinolaryngol 2011 Oct;75(10):1333-6. Epub 2011 Aug 24 doi: 10.1016/j.ijporl.2011.07.033. PMID: 21868108
Noncongenital hereditary hearing loss in children. Prospective documentation.
Madell JR, Sculerati N
Arch Otolaryngol Head Neck Surg 1991 Mar;117(3):332-5. doi: 10.1001/archotol.1991.01870150100015. PMID: 1998574

Prognosis

Clinical course of hearing and language development in GJB2 and non-GJB2 deafness following habilitation with hearing aids.
Matsunaga T, Hirota E, Bito S, Niimi S, Usami S
Audiol Neurootol 2006;11(1):59-68. Epub 2005 Nov 9 doi: 10.1159/000089607. PMID: 16282682
Connexin mutation testing of children with nonsyndromic, autosomal recessive sensorineural hearing loss.
Thomas MA, Der Kaloustian VM, Tewfik TL
J Otolaryngol 2004 Jun;33(3):189-92. doi: 10.2310/7070.2004.00189. PMID: 15841999

Clinical prediction guides

Clinical course of hearing and language development in GJB2 and non-GJB2 deafness following habilitation with hearing aids.
Matsunaga T, Hirota E, Bito S, Niimi S, Usami S
Audiol Neurootol 2006;11(1):59-68. Epub 2005 Nov 9 doi: 10.1159/000089607. PMID: 16282682
Connexin mutation testing of children with nonsyndromic, autosomal recessive sensorineural hearing loss.
Thomas MA, Der Kaloustian VM, Tewfik TL
J Otolaryngol 2004 Jun;33(3):189-92. doi: 10.2310/7070.2004.00189. PMID: 15841999
A Moroccan family with autosomal recessive sensorineural hearing loss caused by a mutation in the gap junction protein gene connexin 26 (GJB2).
Lench NJ, Markham AF, Mueller RF, Kelsell DP, Smith RJ, Willems PJ, Schatteman I, Capon H, Van De Heyning PJ, Van Camp G
J Med Genet 1998 Feb;35(2):151-2. doi: 10.1136/jmg.35.2.151. PMID: 9507396Free PMC Article
A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22.
Campbell DA, McHale DP, Brown KA, Moynihan LM, Houseman M, Karbani G, Parry G, Janjua AH, Newton V, al-Gazali L, Markham AF, Lench NJ, Mueller RF
J Med Genet 1997 Dec;34(12):1015-7. doi: 10.1136/jmg.34.12.1015. PMID: 9429146Free PMC Article

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