Genetics of Postlingual Sensorineural Hearing Loss

被引：22

作者：

Ahmadmehrabi, Shadi ^{[1
,2
]}

Brant, Jason ^{[3
]}

Epstein, Douglas J. ^{[2
]}

Ruckenstein, Michael J. ^{[3
]}

Rader, Daniel J. ^{[2
]}

机构：

[1] Case Western Reserve Univ, Cleveland Clin, Lerner Coll Med, Cleveland, OH 44106 USA

[2] Univ Penn, Dept Genet, Perelman Sch Med, Philadelphia, PA 19104 USA

[3] Univ Penn, Perelman Sch Med, Dept Otorhinolaryngol Head & Neck Surg, Philadelphia, PA 19104 USA

来源：

LARYNGOSCOPE | 2021年 / 131卷 / 02期

关键词：

Genetics; sensorineural hearing loss; hearing loss; NON-SYNDROMIC DEAFNESS; GENOME-WIDE ASSOCIATION; NONSYNDROMIC DEAFNESS; SUPEROXIDE-DISMUTASE; LATE-ONSET; CARDIOVASCULAR-DISEASE; TRANSCRIPTION FACTOR; HEREDITARY DEAFNESS; JUNCTION PROTEIN; DOMINANT FORM;

D O I：

10.1002/lary.28646

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

Literature and clinical practice around adult-onset hearing loss (HL) has traditionally focused on environmental risk factors, including noise exposure, ototoxic drug exposure, and cardiovascular disease. The most common diagnosis in adult-onset HL is presbycusis. However, the age of onset of presbycusis varies, and patients often describe family history of HL as well as individual variation in progression and severity. In recent years, there has been accumulating evidence of gene-environment interactions underlying adult cases of HL. Susceptibility loci for age-related HL have been identified, and genes related to postlingual nonsyndromic HL continue to be discovered through individual reports and genome-wide association studies. This review will outline main concepts in genetics as related to HL, identify implicated genes, and discuss clinical implications. Laryngoscope, 2020

引用

页码：401 / 409

页数：9

共 139 条

[1] Sensorineural hearing loss and mild cardiac phenotype caused by an EYA4 mutation [J].

Abe S. ;

Takeda H. ;

Nishio S.-Y. ;

Usami S.-I. .

Human Genome Variation, 5 (1)

[2] Analysis of mitochondrial alterations in Brazilian patients with sensorineural hearing loss using MALDI-TOF mass spectrometry [J].

Alves, Rogerio Marins ;

da Silva Costa, Sueli Matilde ;

do Amor Divino Miranda, Paulo Mauricio ;

Ramos, Priscila Zonzini ;

Marconi, Thiago Gibbin ;

Oliveira, Gisele Santos ;

Castilho, Arthur Menino ;

Sartorato, Edi Lucia .

BMC MEDICAL GENETICS, 2016, 17

[3] Death, Depression, Disability, and Dementia Associated With Self-reported Hearing Problems: A 25-Year Study [J].

Amieva, Helene ;

Ouvrard, Camille ;

Meillon, Celine ;

Rullier, Laetitia ;

Dartigues, Jean-Francois .

JOURNALS OF GERONTOLOGY SERIES A-BIOLOGICAL SCIENCES AND MEDICAL SCIENCES, 2018, 73 (10) :1383-1389

[4]

[Anonymous], 2015, QUICK STAT HEAR

[5] Rare variant association studies: considerations, challenges and opportunities [J].

Auer, Paul L. ;

Lettre, Guillaume .

GENOME MEDICINE, 2015, 7

[6] HOMER2, a Stereociliary Scaffolding Protein, Is Essential for Normal Hearing in Humans and Mice [J].

Azaiez, Hela ;

Decker, Amanda R. ;

Booth, Kevin T. ;

Simpson, Allen C. ;

Shearer, A. Eliot ;

Huygen, Patrick L. M. ;

Bu, Fengxiao ;

Hildebrand, Michael S. ;

Ranum, Paul T. ;

Shibata, Seiji B. ;

Turner, Ann ;

Zhang, Yuzhou ;

Kimberling, William J. ;

Cornell, Robert A. ;

Smith, Richard J. H. .

PLOS GENETICS, 2015, 11 (03)

[7] TBC1D24 Mutation Causes Autosomal-Dominant Nonsyndromic Hearing Loss [J].

Azaiez, Hela ;

Booth, Kevin T. ;

Bu, Fengxiao ;

Huygen, Patrick ;

Shibata, Seiji B. ;

Shearer, A. Eliot ;

Kolbe, Diana ;

Meyer, Nicole ;

Black-Ziegelbein, E. Ann ;

Smith, Richard J. H. .

HUMAN MUTATION, 2014, 35 (07) :819-823

[8] Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss [J].

Bespalova, IN ;

Van Camp, G ;

Bom, SJH ;

Brown, DJ ;

Cryns, K ;

DeWan, AT ;

Erson, AE ;

Flothmann, K ;

Kunst, HPM ;

Kurnool, P ;

Sivakumaran, TA ;

Cremers, CWRJ ;

Leal, SM ;

Burmeister, M ;

Lesperance, MM .

HUMAN MOLECULAR GENETICS, 2001, 10 (22) :2501-2508

[9] A novel locus for autosomal dominant non-syndromic deafness (DFNA41) maps to chromosome 12q24-qter [J].

Blanton, SH ;

Liang, CY ;

Cai, MW ;

Pandya, A ;

Du, LL ;

Landa, B ;

Mummalanni, S ;

Li, KS ;

Chen, ZY ;

Qin, XN ;

Liu, YF ;

Balkany, T ;

Nance, WE ;

Liu, XZ .

JOURNAL OF MEDICAL GENETICS, 2002, 39 (08) :567-570

[10]

BonneTamir B, 1996, AM J HUM GENET, V58, P1254

← 1 2 3 4 5 6 7 8 9 10 →