Next-generation sequencing facilitates genetic diagnosis and improves the management of patients with hearing loss in clinical practice

被引：3

作者：

Liu, Chang ^{[1
,2
]}

Huang, Yanlin ^{[1
,2
]}

Zhang, Yan ^{[1
,2
]}

Ding, Hongke ^{[1
,2
]}

Yu, Lihua ^{[1
,2
]}

Wang, Anshi ^{[1
,2
]}

Wang, Yunan ^{[1
]}

Zeng, Yukun ^{[1
,2
]}

Liu, Ling ^{[1
,2
]}

Liu, Yuan ^{[1
,2
]}

Qi, Yiming ^{[1
,2
]}

Li, Fake ^{[1
,2
]}

Wu, Jing ^{[1
]}

Du, Li ^{[1
,2
]}

Mai, Fei ^{[3
]}

Zhang, Qi ^{[1
,2
]}

Wang, Xingwang ^{[1
,2
]}

Yin, Aihua ^{[1
,2
,4
]}

机构：

[1] Guangdong Women & Children Hosp, Med Genet Ctr, Guangzhou 510010, Guangdong, Peoples R China

[2] Guangdong Women & Children Hosp, Maternal & Children Metab Genet Key Lab, Guangzhou 510010, Guangdong, Peoples R China

[3] Guangdong Women & Children Hosp, Dept ENT, Guangzhou 510010, Guangdong, Peoples R China

[4] Guangdong Women & Children Hosp, Guangzhou 510010, Peoples R China

来源：

INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY | 2022年 / 161卷

关键词：

Hearing loss; Next -generation sequencing; Molecular analysis; Clinical evaluation; ETIOLOGIC DIAGNOSIS; MEDICAL GENETICS; AMERICAN-COLLEGE; GUIDELINES; GENOMICS;

D O I：

10.1016/j.ijporl.2022.111258

中图分类号：

R76 [耳鼻咽喉科学];

学科分类号：

100213 ;

摘要：

Background: Hearing loss (HL) is a prevalent sensorineural disorder, and is among the most etiologically het-erogeneous disorders. With the advent of next-generation sequencing (NGS) technologies, hundreds of candidate genes can be analyzed simultaneously in a cost-effective manner.Methods: Ninety-four patients from 87 families diagnosed with non-syndromic or syndromic HL were enrolled. A custom-designed HL panel and clinical exome sequencing (CES) were applied to explore molecular etiology in the cohort, and the efficacy of the two panels was examined.Results: The etiologic diagnosis for HL has been identified for 36 out of 87 probands (41.4%), 28 with an autosomal recessive (AR) inheritance pattern and 8 with an autosomal dominant (AD) pattern. Candidate var-iants in 18 different genes were identified in the study cohort, 10 with AR inheritance pattern and 8 with AD pattern. Fourteen of the variants identified in the study were novel.Conclusions: The custom-designed HL panel covers almost all known HL-associated genes, and can be used as an effective clinical diagnostic platform; CES evaluates all exons related to clinical symptoms, and is also suitable for clinical diagnosis of HL. Next-generation sequencing facilitates genetic diagnosis and improves the management of patients with HL in the clinical practice.

引用

页数：7

共 21 条

[11] Utility of droplet digital PCR and NGS-based CNV clinical assays in hearing loss diagnostics: current status and future prospects [J].

Rentas, Stefan ;

Abou Tayoun, Ahmad .

EXPERT REVIEW OF MOLECULAR DIAGNOSTICS, 2021, 21 (02) :213-221

[12] Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology [J].

Richards, Sue ;

Aziz, Nazneen ;

Bale, Sherri ;

Bick, David ;

Das, Soma ;

Gastier-Foster, Julie ;

Grody, Wayne W. ;

Hegde, Madhuri ;

Lyon, Elaine ;

Spector, Elaine ;

Voelkerding, Karl ;

Rehm, Heidi L. .

GENETICS IN MEDICINE, 2015, 17 (05) :405-424

[13] Genetic testing as part of the Early Hearing Detection and Intervention (EHDI) process [J].

Schimmenti, LA ;

Martinez, A ;

Fox, M ;

Crandall, B ;

Shapiro, N ;

Telatar, M ;

Sininger, Y ;

Grody, WW ;

Palmer, CGS .

GENETICS IN MEDICINE, 2004, 6 (06) :521-525

[14] Massively Parallel Sequencing for Genetic Diagnosis of Hearing Loss: The New Standard of Care [J].

Shearer, A. Eliot ;

Smith, Richard J. H. .

OTOLARYNGOLOGY-HEAD AND NECK SURGERY, 2015, 153 (02) :175-182

[15] Copy number variants are a common cause of non-syndromic hearing loss [J].

Shearer, A. Eliot ;

Kolbe, Diana L. ;

Azaiez, Hela ;

Sloan, Christina M. ;

Frees, Kathy L. ;

Weaver, Amy E. ;

Clark, Erika T. ;

Nishimura, Carla J. ;

Black-Ziegelbein, E. Ann ;

Smith, Richard J. H. .

GENOME MEDICINE, 2014, 6

[16] Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss [J].

Sloan-Heggen, Christina M. ;

Bierer, Amanda O. ;

Shearer, A. Eliot ;

Kolbe, Diana L. ;

Nishimura, Carla J. ;

Frees, Kathy L. ;

Ephraim, Sean S. ;

Shibata, Seiji B. ;

Booth, Kevin T. ;

Campbell, Colleen A. ;

Ranum, Paul T. ;

Weaver, Amy E. ;

Black-Ziegelbein, E. Ann ;

Wang, Donghong ;

Azaiez, Hela ;

Smith, Richard J. H. .

HUMAN GENETICS, 2016, 135 (04) :441-450

[17]

Toriello H. V., 2013, Hereditary hearing loss and its syndromes

[18] Global hearing health care: new findings and perspectives [J].

Wilson, Blake S. ;

Tucci, Debara L. ;

Merson, Michael H. ;

O'Donoghue, Gerard M. .

LANCET, 2017, 390 (10111) :2503-2515

[19]

World Health Organization, ADDR RIS PREV HEAR L

[20] Next-generation sequencing identifies rare pathogenic and novel candidate variants in a cohort of Chinese patients with syndromic or nonsyndromic hearing loss [J].

Xiang, Yan-Bao ;

Xu, Chen-Yang ;

Xu, Yun-Zhi ;

Li, Huan-Zheng ;

Zhou, Li-Li ;

Xu, Xue-Qin ;

Chen, Zi-Hui ;

Tang, Shao-Hua .

MOLECULAR GENETICS & GENOMIC MEDICINE, 2020, 8 (12)

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