Comprehensive genetic testing improves the clinical diagnosis and medical management of pediatric patients with isolated hearing loss

Abstract Purpose Genetic testing is widely used in diagnosing genetic hearing loss in patients. Other than providing genetic etiology, the benefits of genetic testing in pediatric patients with hearing loss are less investigated. Methods From 2018–2020, pediatric patients who initially presented iso...
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Autor*in:	Jiale Xiang [verfasserIn] Yuan Jin [verfasserIn] Nana Song [verfasserIn] Sen Chen [verfasserIn] Jiankun Shen [verfasserIn] Wen Xie [verfasserIn] Xiangzhong Sun [verfasserIn] Zhiyu Peng [verfasserIn] Yu Sun [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2022

Schlagwörter:	Isolated hearing loss Genetic testing Syndromic hearing loss Nonsyndromic hearing loss mimics

Übergeordnetes Werk:	In: BMC Medical Genomics - BMC, 2008, 15(2022), 1, Seite 10
Übergeordnetes Werk:	volume:15 ; year:2022 ; number:1 ; pages:10

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc

DOI / URN:	10.1186/s12920-022-01293-x

Katalog-ID:	DOAJ037138391

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520			\|a Abstract Purpose Genetic testing is widely used in diagnosing genetic hearing loss in patients. Other than providing genetic etiology, the benefits of genetic testing in pediatric patients with hearing loss are less investigated. Methods From 2018–2020, pediatric patients who initially presented isolated hearing loss were enrolled. Comprehensive genetic testing, including GJB2/SLC26A4 multiplex amplicon sequencing, STRC/OTOA copy number variation analysis, and exome sequencing, were hierarchically offered. Clinical follow-up and examinations were performed. Results A total of 80 pediatric patients who initially presented isolated hearing loss were considered as nonsyndromic hearing loss and enrolled in this study. The definitive diagnosis yield was 66% (53/80) and the likely diagnosis yield was 8% (6/80) through comprehensive genetic testing. With the aid of genetic testing and further clinical follow-up and examinations, the clinical diagnoses and medical management were altered in eleven patients (19%, 11/59); five were syndromic hearing loss; six were nonsyndromic hearing loss mimics. Conclusion Syndromic hearing loss and nonsyndromic hearing loss mimics are common in pediatric patients who initially present with isolated hearing loss. The comprehensive genetic testing provides not only a high diagnostic yield but also valuable information for clinicians to uncover subclinical or pre-symptomatic phenotypes, which allows early diagnosis of SHL, and leads to precise genetic counseling and changes the medical management.
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allfields	10.1186/s12920-022-01293-x doi (DE-627)DOAJ037138391 (DE-599)DOAJ616b5c7063cf461b832dd2cc0cf7d092 DE-627 ger DE-627 rakwb eng RC31-1245 QH426-470 Jiale Xiang verfasserin aut Comprehensive genetic testing improves the clinical diagnosis and medical management of pediatric patients with isolated hearing loss 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Purpose Genetic testing is widely used in diagnosing genetic hearing loss in patients. Other than providing genetic etiology, the benefits of genetic testing in pediatric patients with hearing loss are less investigated. Methods From 2018–2020, pediatric patients who initially presented isolated hearing loss were enrolled. Comprehensive genetic testing, including GJB2/SLC26A4 multiplex amplicon sequencing, STRC/OTOA copy number variation analysis, and exome sequencing, were hierarchically offered. Clinical follow-up and examinations were performed. Results A total of 80 pediatric patients who initially presented isolated hearing loss were considered as nonsyndromic hearing loss and enrolled in this study. The definitive diagnosis yield was 66% (53/80) and the likely diagnosis yield was 8% (6/80) through comprehensive genetic testing. With the aid of genetic testing and further clinical follow-up and examinations, the clinical diagnoses and medical management were altered in eleven patients (19%, 11/59); five were syndromic hearing loss; six were nonsyndromic hearing loss mimics. Conclusion Syndromic hearing loss and nonsyndromic hearing loss mimics are common in pediatric patients who initially present with isolated hearing loss. The comprehensive genetic testing provides not only a high diagnostic yield but also valuable information for clinicians to uncover subclinical or pre-symptomatic phenotypes, which allows early diagnosis of SHL, and leads to precise genetic counseling and changes the medical management. Isolated hearing loss Genetic testing Syndromic hearing loss Nonsyndromic hearing loss mimics Internal medicine Genetics Yuan Jin verfasserin aut Nana Song verfasserin aut Sen Chen verfasserin aut Jiankun Shen verfasserin aut Wen Xie verfasserin aut Xiangzhong Sun verfasserin aut Zhiyu Peng verfasserin aut Yu Sun verfasserin aut In BMC Medical Genomics BMC, 2008 15(2022), 1, Seite 10 (DE-627)559080824 (DE-600)2411865-5 17558794 nnns volume:15 year:2022 number:1 pages:10 https://doi.org/10.1186/s12920-022-01293-x kostenfrei https://doaj.org/article/616b5c7063cf461b832dd2cc0cf7d092 kostenfrei https://doi.org/10.1186/s12920-022-01293-x kostenfrei https://doaj.org/toc/1755-8794 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 15 2022 1 10
spelling	10.1186/s12920-022-01293-x doi (DE-627)DOAJ037138391 (DE-599)DOAJ616b5c7063cf461b832dd2cc0cf7d092 DE-627 ger DE-627 rakwb eng RC31-1245 QH426-470 Jiale Xiang verfasserin aut Comprehensive genetic testing improves the clinical diagnosis and medical management of pediatric patients with isolated hearing loss 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Purpose Genetic testing is widely used in diagnosing genetic hearing loss in patients. Other than providing genetic etiology, the benefits of genetic testing in pediatric patients with hearing loss are less investigated. Methods From 2018–2020, pediatric patients who initially presented isolated hearing loss were enrolled. Comprehensive genetic testing, including GJB2/SLC26A4 multiplex amplicon sequencing, STRC/OTOA copy number variation analysis, and exome sequencing, were hierarchically offered. Clinical follow-up and examinations were performed. Results A total of 80 pediatric patients who initially presented isolated hearing loss were considered as nonsyndromic hearing loss and enrolled in this study. The definitive diagnosis yield was 66% (53/80) and the likely diagnosis yield was 8% (6/80) through comprehensive genetic testing. With the aid of genetic testing and further clinical follow-up and examinations, the clinical diagnoses and medical management were altered in eleven patients (19%, 11/59); five were syndromic hearing loss; six were nonsyndromic hearing loss mimics. Conclusion Syndromic hearing loss and nonsyndromic hearing loss mimics are common in pediatric patients who initially present with isolated hearing loss. The comprehensive genetic testing provides not only a high diagnostic yield but also valuable information for clinicians to uncover subclinical or pre-symptomatic phenotypes, which allows early diagnosis of SHL, and leads to precise genetic counseling and changes the medical management. Isolated hearing loss Genetic testing Syndromic hearing loss Nonsyndromic hearing loss mimics Internal medicine Genetics Yuan Jin verfasserin aut Nana Song verfasserin aut Sen Chen verfasserin aut Jiankun Shen verfasserin aut Wen Xie verfasserin aut Xiangzhong Sun verfasserin aut Zhiyu Peng verfasserin aut Yu Sun verfasserin aut In BMC Medical Genomics BMC, 2008 15(2022), 1, Seite 10 (DE-627)559080824 (DE-600)2411865-5 17558794 nnns volume:15 year:2022 number:1 pages:10 https://doi.org/10.1186/s12920-022-01293-x kostenfrei https://doaj.org/article/616b5c7063cf461b832dd2cc0cf7d092 kostenfrei https://doi.org/10.1186/s12920-022-01293-x kostenfrei https://doaj.org/toc/1755-8794 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 15 2022 1 10
allfields_unstemmed	10.1186/s12920-022-01293-x doi (DE-627)DOAJ037138391 (DE-599)DOAJ616b5c7063cf461b832dd2cc0cf7d092 DE-627 ger DE-627 rakwb eng RC31-1245 QH426-470 Jiale Xiang verfasserin aut Comprehensive genetic testing improves the clinical diagnosis and medical management of pediatric patients with isolated hearing loss 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Purpose Genetic testing is widely used in diagnosing genetic hearing loss in patients. Other than providing genetic etiology, the benefits of genetic testing in pediatric patients with hearing loss are less investigated. Methods From 2018–2020, pediatric patients who initially presented isolated hearing loss were enrolled. Comprehensive genetic testing, including GJB2/SLC26A4 multiplex amplicon sequencing, STRC/OTOA copy number variation analysis, and exome sequencing, were hierarchically offered. Clinical follow-up and examinations were performed. Results A total of 80 pediatric patients who initially presented isolated hearing loss were considered as nonsyndromic hearing loss and enrolled in this study. The definitive diagnosis yield was 66% (53/80) and the likely diagnosis yield was 8% (6/80) through comprehensive genetic testing. With the aid of genetic testing and further clinical follow-up and examinations, the clinical diagnoses and medical management were altered in eleven patients (19%, 11/59); five were syndromic hearing loss; six were nonsyndromic hearing loss mimics. Conclusion Syndromic hearing loss and nonsyndromic hearing loss mimics are common in pediatric patients who initially present with isolated hearing loss. The comprehensive genetic testing provides not only a high diagnostic yield but also valuable information for clinicians to uncover subclinical or pre-symptomatic phenotypes, which allows early diagnosis of SHL, and leads to precise genetic counseling and changes the medical management. Isolated hearing loss Genetic testing Syndromic hearing loss Nonsyndromic hearing loss mimics Internal medicine Genetics Yuan Jin verfasserin aut Nana Song verfasserin aut Sen Chen verfasserin aut Jiankun Shen verfasserin aut Wen Xie verfasserin aut Xiangzhong Sun verfasserin aut Zhiyu Peng verfasserin aut Yu Sun verfasserin aut In BMC Medical Genomics BMC, 2008 15(2022), 1, Seite 10 (DE-627)559080824 (DE-600)2411865-5 17558794 nnns volume:15 year:2022 number:1 pages:10 https://doi.org/10.1186/s12920-022-01293-x kostenfrei https://doaj.org/article/616b5c7063cf461b832dd2cc0cf7d092 kostenfrei https://doi.org/10.1186/s12920-022-01293-x kostenfrei https://doaj.org/toc/1755-8794 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 15 2022 1 10
allfieldsGer	10.1186/s12920-022-01293-x doi (DE-627)DOAJ037138391 (DE-599)DOAJ616b5c7063cf461b832dd2cc0cf7d092 DE-627 ger DE-627 rakwb eng RC31-1245 QH426-470 Jiale Xiang verfasserin aut Comprehensive genetic testing improves the clinical diagnosis and medical management of pediatric patients with isolated hearing loss 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Purpose Genetic testing is widely used in diagnosing genetic hearing loss in patients. Other than providing genetic etiology, the benefits of genetic testing in pediatric patients with hearing loss are less investigated. Methods From 2018–2020, pediatric patients who initially presented isolated hearing loss were enrolled. Comprehensive genetic testing, including GJB2/SLC26A4 multiplex amplicon sequencing, STRC/OTOA copy number variation analysis, and exome sequencing, were hierarchically offered. Clinical follow-up and examinations were performed. Results A total of 80 pediatric patients who initially presented isolated hearing loss were considered as nonsyndromic hearing loss and enrolled in this study. The definitive diagnosis yield was 66% (53/80) and the likely diagnosis yield was 8% (6/80) through comprehensive genetic testing. With the aid of genetic testing and further clinical follow-up and examinations, the clinical diagnoses and medical management were altered in eleven patients (19%, 11/59); five were syndromic hearing loss; six were nonsyndromic hearing loss mimics. Conclusion Syndromic hearing loss and nonsyndromic hearing loss mimics are common in pediatric patients who initially present with isolated hearing loss. The comprehensive genetic testing provides not only a high diagnostic yield but also valuable information for clinicians to uncover subclinical or pre-symptomatic phenotypes, which allows early diagnosis of SHL, and leads to precise genetic counseling and changes the medical management. Isolated hearing loss Genetic testing Syndromic hearing loss Nonsyndromic hearing loss mimics Internal medicine Genetics Yuan Jin verfasserin aut Nana Song verfasserin aut Sen Chen verfasserin aut Jiankun Shen verfasserin aut Wen Xie verfasserin aut Xiangzhong Sun verfasserin aut Zhiyu Peng verfasserin aut Yu Sun verfasserin aut In BMC Medical Genomics BMC, 2008 15(2022), 1, Seite 10 (DE-627)559080824 (DE-600)2411865-5 17558794 nnns volume:15 year:2022 number:1 pages:10 https://doi.org/10.1186/s12920-022-01293-x kostenfrei https://doaj.org/article/616b5c7063cf461b832dd2cc0cf7d092 kostenfrei https://doi.org/10.1186/s12920-022-01293-x kostenfrei https://doaj.org/toc/1755-8794 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 15 2022 1 10
allfieldsSound	10.1186/s12920-022-01293-x doi (DE-627)DOAJ037138391 (DE-599)DOAJ616b5c7063cf461b832dd2cc0cf7d092 DE-627 ger DE-627 rakwb eng RC31-1245 QH426-470 Jiale Xiang verfasserin aut Comprehensive genetic testing improves the clinical diagnosis and medical management of pediatric patients with isolated hearing loss 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Purpose Genetic testing is widely used in diagnosing genetic hearing loss in patients. Other than providing genetic etiology, the benefits of genetic testing in pediatric patients with hearing loss are less investigated. Methods From 2018–2020, pediatric patients who initially presented isolated hearing loss were enrolled. Comprehensive genetic testing, including GJB2/SLC26A4 multiplex amplicon sequencing, STRC/OTOA copy number variation analysis, and exome sequencing, were hierarchically offered. Clinical follow-up and examinations were performed. Results A total of 80 pediatric patients who initially presented isolated hearing loss were considered as nonsyndromic hearing loss and enrolled in this study. The definitive diagnosis yield was 66% (53/80) and the likely diagnosis yield was 8% (6/80) through comprehensive genetic testing. With the aid of genetic testing and further clinical follow-up and examinations, the clinical diagnoses and medical management were altered in eleven patients (19%, 11/59); five were syndromic hearing loss; six were nonsyndromic hearing loss mimics. Conclusion Syndromic hearing loss and nonsyndromic hearing loss mimics are common in pediatric patients who initially present with isolated hearing loss. The comprehensive genetic testing provides not only a high diagnostic yield but also valuable information for clinicians to uncover subclinical or pre-symptomatic phenotypes, which allows early diagnosis of SHL, and leads to precise genetic counseling and changes the medical management. Isolated hearing loss Genetic testing Syndromic hearing loss Nonsyndromic hearing loss mimics Internal medicine Genetics Yuan Jin verfasserin aut Nana Song verfasserin aut Sen Chen verfasserin aut Jiankun Shen verfasserin aut Wen Xie verfasserin aut Xiangzhong Sun verfasserin aut Zhiyu Peng verfasserin aut Yu Sun verfasserin aut In BMC Medical Genomics BMC, 2008 15(2022), 1, Seite 10 (DE-627)559080824 (DE-600)2411865-5 17558794 nnns volume:15 year:2022 number:1 pages:10 https://doi.org/10.1186/s12920-022-01293-x kostenfrei https://doaj.org/article/616b5c7063cf461b832dd2cc0cf7d092 kostenfrei https://doi.org/10.1186/s12920-022-01293-x kostenfrei https://doaj.org/toc/1755-8794 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 15 2022 1 10
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authorswithroles_txt_mv	Jiale Xiang @@aut@@ Yuan Jin @@aut@@ Nana Song @@aut@@ Sen Chen @@aut@@ Jiankun Shen @@aut@@ Wen Xie @@aut@@ Xiangzhong Sun @@aut@@ Zhiyu Peng @@aut@@ Yu Sun @@aut@@
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Other than providing genetic etiology, the benefits of genetic testing in pediatric patients with hearing loss are less investigated. Methods From 2018–2020, pediatric patients who initially presented isolated hearing loss were enrolled. Comprehensive genetic testing, including GJB2/SLC26A4 multiplex amplicon sequencing, STRC/OTOA copy number variation analysis, and exome sequencing, were hierarchically offered. Clinical follow-up and examinations were performed. Results A total of 80 pediatric patients who initially presented isolated hearing loss were considered as nonsyndromic hearing loss and enrolled in this study. The definitive diagnosis yield was 66% (53/80) and the likely diagnosis yield was 8% (6/80) through comprehensive genetic testing. With the aid of genetic testing and further clinical follow-up and examinations, the clinical diagnoses and medical management were altered in eleven patients (19%, 11/59); five were syndromic hearing loss; six were nonsyndromic hearing loss mimics. Conclusion Syndromic hearing loss and nonsyndromic hearing loss mimics are common in pediatric patients who initially present with isolated hearing loss. 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callnumber-first	R - Medicine
author	Jiale Xiang
spellingShingle	Jiale Xiang misc RC31-1245 misc QH426-470 misc Isolated hearing loss misc Genetic testing misc Syndromic hearing loss misc Nonsyndromic hearing loss mimics misc Internal medicine misc Genetics Comprehensive genetic testing improves the clinical diagnosis and medical management of pediatric patients with isolated hearing loss
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topic_title	RC31-1245 QH426-470 Comprehensive genetic testing improves the clinical diagnosis and medical management of pediatric patients with isolated hearing loss Isolated hearing loss Genetic testing Syndromic hearing loss Nonsyndromic hearing loss mimics
topic	misc RC31-1245 misc QH426-470 misc Isolated hearing loss misc Genetic testing misc Syndromic hearing loss misc Nonsyndromic hearing loss mimics misc Internal medicine misc Genetics
topic_unstemmed	misc RC31-1245 misc QH426-470 misc Isolated hearing loss misc Genetic testing misc Syndromic hearing loss misc Nonsyndromic hearing loss mimics misc Internal medicine misc Genetics
topic_browse	misc RC31-1245 misc QH426-470 misc Isolated hearing loss misc Genetic testing misc Syndromic hearing loss misc Nonsyndromic hearing loss mimics misc Internal medicine misc Genetics
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title	Comprehensive genetic testing improves the clinical diagnosis and medical management of pediatric patients with isolated hearing loss
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title_full	Comprehensive genetic testing improves the clinical diagnosis and medical management of pediatric patients with isolated hearing loss
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author_browse	Jiale Xiang Yuan Jin Nana Song Sen Chen Jiankun Shen Wen Xie Xiangzhong Sun Zhiyu Peng Yu Sun
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title_sort	comprehensive genetic testing improves the clinical diagnosis and medical management of pediatric patients with isolated hearing loss
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title_auth	Comprehensive genetic testing improves the clinical diagnosis and medical management of pediatric patients with isolated hearing loss
abstract	Abstract Purpose Genetic testing is widely used in diagnosing genetic hearing loss in patients. Other than providing genetic etiology, the benefits of genetic testing in pediatric patients with hearing loss are less investigated. Methods From 2018–2020, pediatric patients who initially presented isolated hearing loss were enrolled. Comprehensive genetic testing, including GJB2/SLC26A4 multiplex amplicon sequencing, STRC/OTOA copy number variation analysis, and exome sequencing, were hierarchically offered. Clinical follow-up and examinations were performed. Results A total of 80 pediatric patients who initially presented isolated hearing loss were considered as nonsyndromic hearing loss and enrolled in this study. The definitive diagnosis yield was 66% (53/80) and the likely diagnosis yield was 8% (6/80) through comprehensive genetic testing. With the aid of genetic testing and further clinical follow-up and examinations, the clinical diagnoses and medical management were altered in eleven patients (19%, 11/59); five were syndromic hearing loss; six were nonsyndromic hearing loss mimics. Conclusion Syndromic hearing loss and nonsyndromic hearing loss mimics are common in pediatric patients who initially present with isolated hearing loss. The comprehensive genetic testing provides not only a high diagnostic yield but also valuable information for clinicians to uncover subclinical or pre-symptomatic phenotypes, which allows early diagnosis of SHL, and leads to precise genetic counseling and changes the medical management.
abstractGer	Abstract Purpose Genetic testing is widely used in diagnosing genetic hearing loss in patients. Other than providing genetic etiology, the benefits of genetic testing in pediatric patients with hearing loss are less investigated. Methods From 2018–2020, pediatric patients who initially presented isolated hearing loss were enrolled. Comprehensive genetic testing, including GJB2/SLC26A4 multiplex amplicon sequencing, STRC/OTOA copy number variation analysis, and exome sequencing, were hierarchically offered. Clinical follow-up and examinations were performed. Results A total of 80 pediatric patients who initially presented isolated hearing loss were considered as nonsyndromic hearing loss and enrolled in this study. The definitive diagnosis yield was 66% (53/80) and the likely diagnosis yield was 8% (6/80) through comprehensive genetic testing. With the aid of genetic testing and further clinical follow-up and examinations, the clinical diagnoses and medical management were altered in eleven patients (19%, 11/59); five were syndromic hearing loss; six were nonsyndromic hearing loss mimics. Conclusion Syndromic hearing loss and nonsyndromic hearing loss mimics are common in pediatric patients who initially present with isolated hearing loss. The comprehensive genetic testing provides not only a high diagnostic yield but also valuable information for clinicians to uncover subclinical or pre-symptomatic phenotypes, which allows early diagnosis of SHL, and leads to precise genetic counseling and changes the medical management.
abstract_unstemmed	Abstract Purpose Genetic testing is widely used in diagnosing genetic hearing loss in patients. Other than providing genetic etiology, the benefits of genetic testing in pediatric patients with hearing loss are less investigated. Methods From 2018–2020, pediatric patients who initially presented isolated hearing loss were enrolled. Comprehensive genetic testing, including GJB2/SLC26A4 multiplex amplicon sequencing, STRC/OTOA copy number variation analysis, and exome sequencing, were hierarchically offered. Clinical follow-up and examinations were performed. Results A total of 80 pediatric patients who initially presented isolated hearing loss were considered as nonsyndromic hearing loss and enrolled in this study. The definitive diagnosis yield was 66% (53/80) and the likely diagnosis yield was 8% (6/80) through comprehensive genetic testing. With the aid of genetic testing and further clinical follow-up and examinations, the clinical diagnoses and medical management were altered in eleven patients (19%, 11/59); five were syndromic hearing loss; six were nonsyndromic hearing loss mimics. Conclusion Syndromic hearing loss and nonsyndromic hearing loss mimics are common in pediatric patients who initially present with isolated hearing loss. The comprehensive genetic testing provides not only a high diagnostic yield but also valuable information for clinicians to uncover subclinical or pre-symptomatic phenotypes, which allows early diagnosis of SHL, and leads to precise genetic counseling and changes the medical management.
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title_short	Comprehensive genetic testing improves the clinical diagnosis and medical management of pediatric patients with isolated hearing loss
url	https://doi.org/10.1186/s12920-022-01293-x https://doaj.org/article/616b5c7063cf461b832dd2cc0cf7d092 https://doaj.org/toc/1755-8794
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author2	Yuan Jin Nana Song Sen Chen Jiankun Shen Wen Xie Xiangzhong Sun Zhiyu Peng Yu Sun
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up_date	2024-07-04T00:04:21.390Z
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With the aid of genetic testing and further clinical follow-up and examinations, the clinical diagnoses and medical management were altered in eleven patients (19%, 11/59); five were syndromic hearing loss; six were nonsyndromic hearing loss mimics. Conclusion Syndromic hearing loss and nonsyndromic hearing loss mimics are common in pediatric patients who initially present with isolated hearing loss. 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Comprehensive genetic testing improves the clinical diagnosis and medical management of pediatric patients with isolated hearing loss

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