X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males

Objective To analyze the clinical audiological characteristics of X-Linked Alport syndrome (XLAS) in males and their relationships with genotypes. Methods The clinical data of 87 male patients with AS were reviewed. Hearing levels were evaluated using pure tone audiometry (PTA) testing, acoustic imm...
Ausführliche Beschreibung

Gespeichert in:

Autor*in:	Zhang, Xiao [verfasserIn] Zhang, Yanqin Zhang, Yanmei Gu, Hongbo Chen, Zhe Ren, Lei Lu, Xingxing Chen, Li Wang, Fang Liu, Yuhe Ding, Jie

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2018

Schlagwörter:	X-linked Alport syndrome Hearing features Gene mutation

Anmerkung:	© The Author(s). 2018

Übergeordnetes Werk:	Enthalten in: Orphanet journal of rare diseases - London : BioMed Central, 2006, 13(2018), 1 vom: 22. Dez.
Übergeordnetes Werk:	volume:13 ; year:2018 ; number:1 ; day:22 ; month:12

Links:	Volltext

DOI / URN:	10.1186/s13023-018-0974-4

Katalog-ID:	SPR029501504

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520			\|a Objective To analyze the clinical audiological characteristics of X-Linked Alport syndrome (XLAS) in males and their relationships with genotypes. Methods The clinical data of 87 male patients with AS were reviewed. Hearing levels were evaluated using pure tone audiometry (PTA) testing, acoustic immittance, and otoacoustic emissions (OAE) testing. The genotypes of COL4A5 and the pathogenic variants were analyzed. The relationships between auditory phenotypes and genotypes were analyzed. Results Among the 87 patients, the number of patients with normal hearing and hearing loss were 32 and 55, respectively. In all cases, the hearing loss was characterized as bilateral symmetrical sensorineural deafness. Majority of the patients had mild-to-moderate hearing loss. Hearing loss usually started in the middle frequency range and gradually affected high frequencies, at school age and gradually increased with increasing age. However, it maintained a relatively steady level of 50–60 dB HL during the teenage years. The audiometric curves included groove-type in 51 cases (92.73%). Patients were identified to have 60 different COL4A5 pathogenic variants. Of the 49 patients who were followed-up for more than 2 years, 28 cases presented a decreasing trend in the hearing level of about 5 dB per year. The degree of hearing loss was positively correlated with gene mutation type and renal function. Conclusions Hearing loss in males with XLAS is symmetrical sensorineural, and progressive with increasing age. There is a significant correlation between the degree of hearing loss and genotype, renal function, and age.
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allfields	10.1186/s13023-018-0974-4 doi (DE-627)SPR029501504 (SPR)s13023-018-0974-4-e DE-627 ger DE-627 rakwb eng Zhang, Xiao verfasserin aut X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males 2018 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2018 Objective To analyze the clinical audiological characteristics of X-Linked Alport syndrome (XLAS) in males and their relationships with genotypes. Methods The clinical data of 87 male patients with AS were reviewed. Hearing levels were evaluated using pure tone audiometry (PTA) testing, acoustic immittance, and otoacoustic emissions (OAE) testing. The genotypes of COL4A5 and the pathogenic variants were analyzed. The relationships between auditory phenotypes and genotypes were analyzed. Results Among the 87 patients, the number of patients with normal hearing and hearing loss were 32 and 55, respectively. In all cases, the hearing loss was characterized as bilateral symmetrical sensorineural deafness. Majority of the patients had mild-to-moderate hearing loss. Hearing loss usually started in the middle frequency range and gradually affected high frequencies, at school age and gradually increased with increasing age. However, it maintained a relatively steady level of 50–60 dB HL during the teenage years. The audiometric curves included groove-type in 51 cases (92.73%). Patients were identified to have 60 different COL4A5 pathogenic variants. Of the 49 patients who were followed-up for more than 2 years, 28 cases presented a decreasing trend in the hearing level of about 5 dB per year. The degree of hearing loss was positively correlated with gene mutation type and renal function. Conclusions Hearing loss in males with XLAS is symmetrical sensorineural, and progressive with increasing age. There is a significant correlation between the degree of hearing loss and genotype, renal function, and age. X-linked Alport syndrome (dpeaa)DE-He213 Hearing features (dpeaa)DE-He213 Gene mutation (dpeaa)DE-He213 Zhang, Yanqin aut Zhang, Yanmei aut Gu, Hongbo aut Chen, Zhe aut Ren, Lei aut Lu, Xingxing aut Chen, Li aut Wang, Fang aut Liu, Yuhe aut Ding, Jie aut Enthalten in Orphanet journal of rare diseases London : BioMed Central, 2006 13(2018), 1 vom: 22. Dez. (DE-627)50900637X (DE-600)2225857-7 1750-1172 nnns volume:13 year:2018 number:1 day:22 month:12 https://dx.doi.org/10.1186/s13023-018-0974-4 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 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 13 2018 1 22 12
spelling	10.1186/s13023-018-0974-4 doi (DE-627)SPR029501504 (SPR)s13023-018-0974-4-e DE-627 ger DE-627 rakwb eng Zhang, Xiao verfasserin aut X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males 2018 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2018 Objective To analyze the clinical audiological characteristics of X-Linked Alport syndrome (XLAS) in males and their relationships with genotypes. Methods The clinical data of 87 male patients with AS were reviewed. Hearing levels were evaluated using pure tone audiometry (PTA) testing, acoustic immittance, and otoacoustic emissions (OAE) testing. The genotypes of COL4A5 and the pathogenic variants were analyzed. The relationships between auditory phenotypes and genotypes were analyzed. Results Among the 87 patients, the number of patients with normal hearing and hearing loss were 32 and 55, respectively. In all cases, the hearing loss was characterized as bilateral symmetrical sensorineural deafness. Majority of the patients had mild-to-moderate hearing loss. Hearing loss usually started in the middle frequency range and gradually affected high frequencies, at school age and gradually increased with increasing age. However, it maintained a relatively steady level of 50–60 dB HL during the teenage years. The audiometric curves included groove-type in 51 cases (92.73%). Patients were identified to have 60 different COL4A5 pathogenic variants. Of the 49 patients who were followed-up for more than 2 years, 28 cases presented a decreasing trend in the hearing level of about 5 dB per year. The degree of hearing loss was positively correlated with gene mutation type and renal function. Conclusions Hearing loss in males with XLAS is symmetrical sensorineural, and progressive with increasing age. There is a significant correlation between the degree of hearing loss and genotype, renal function, and age. X-linked Alport syndrome (dpeaa)DE-He213 Hearing features (dpeaa)DE-He213 Gene mutation (dpeaa)DE-He213 Zhang, Yanqin aut Zhang, Yanmei aut Gu, Hongbo aut Chen, Zhe aut Ren, Lei aut Lu, Xingxing aut Chen, Li aut Wang, Fang aut Liu, Yuhe aut Ding, Jie aut Enthalten in Orphanet journal of rare diseases London : BioMed Central, 2006 13(2018), 1 vom: 22. Dez. (DE-627)50900637X (DE-600)2225857-7 1750-1172 nnns volume:13 year:2018 number:1 day:22 month:12 https://dx.doi.org/10.1186/s13023-018-0974-4 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 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 13 2018 1 22 12
allfields_unstemmed	10.1186/s13023-018-0974-4 doi (DE-627)SPR029501504 (SPR)s13023-018-0974-4-e DE-627 ger DE-627 rakwb eng Zhang, Xiao verfasserin aut X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males 2018 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2018 Objective To analyze the clinical audiological characteristics of X-Linked Alport syndrome (XLAS) in males and their relationships with genotypes. Methods The clinical data of 87 male patients with AS were reviewed. Hearing levels were evaluated using pure tone audiometry (PTA) testing, acoustic immittance, and otoacoustic emissions (OAE) testing. The genotypes of COL4A5 and the pathogenic variants were analyzed. The relationships between auditory phenotypes and genotypes were analyzed. Results Among the 87 patients, the number of patients with normal hearing and hearing loss were 32 and 55, respectively. In all cases, the hearing loss was characterized as bilateral symmetrical sensorineural deafness. Majority of the patients had mild-to-moderate hearing loss. Hearing loss usually started in the middle frequency range and gradually affected high frequencies, at school age and gradually increased with increasing age. However, it maintained a relatively steady level of 50–60 dB HL during the teenage years. The audiometric curves included groove-type in 51 cases (92.73%). Patients were identified to have 60 different COL4A5 pathogenic variants. Of the 49 patients who were followed-up for more than 2 years, 28 cases presented a decreasing trend in the hearing level of about 5 dB per year. The degree of hearing loss was positively correlated with gene mutation type and renal function. Conclusions Hearing loss in males with XLAS is symmetrical sensorineural, and progressive with increasing age. There is a significant correlation between the degree of hearing loss and genotype, renal function, and age. X-linked Alport syndrome (dpeaa)DE-He213 Hearing features (dpeaa)DE-He213 Gene mutation (dpeaa)DE-He213 Zhang, Yanqin aut Zhang, Yanmei aut Gu, Hongbo aut Chen, Zhe aut Ren, Lei aut Lu, Xingxing aut Chen, Li aut Wang, Fang aut Liu, Yuhe aut Ding, Jie aut Enthalten in Orphanet journal of rare diseases London : BioMed Central, 2006 13(2018), 1 vom: 22. Dez. (DE-627)50900637X (DE-600)2225857-7 1750-1172 nnns volume:13 year:2018 number:1 day:22 month:12 https://dx.doi.org/10.1186/s13023-018-0974-4 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 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 13 2018 1 22 12
allfieldsGer	10.1186/s13023-018-0974-4 doi (DE-627)SPR029501504 (SPR)s13023-018-0974-4-e DE-627 ger DE-627 rakwb eng Zhang, Xiao verfasserin aut X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males 2018 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2018 Objective To analyze the clinical audiological characteristics of X-Linked Alport syndrome (XLAS) in males and their relationships with genotypes. Methods The clinical data of 87 male patients with AS were reviewed. Hearing levels were evaluated using pure tone audiometry (PTA) testing, acoustic immittance, and otoacoustic emissions (OAE) testing. The genotypes of COL4A5 and the pathogenic variants were analyzed. The relationships between auditory phenotypes and genotypes were analyzed. Results Among the 87 patients, the number of patients with normal hearing and hearing loss were 32 and 55, respectively. In all cases, the hearing loss was characterized as bilateral symmetrical sensorineural deafness. Majority of the patients had mild-to-moderate hearing loss. Hearing loss usually started in the middle frequency range and gradually affected high frequencies, at school age and gradually increased with increasing age. However, it maintained a relatively steady level of 50–60 dB HL during the teenage years. The audiometric curves included groove-type in 51 cases (92.73%). Patients were identified to have 60 different COL4A5 pathogenic variants. Of the 49 patients who were followed-up for more than 2 years, 28 cases presented a decreasing trend in the hearing level of about 5 dB per year. The degree of hearing loss was positively correlated with gene mutation type and renal function. Conclusions Hearing loss in males with XLAS is symmetrical sensorineural, and progressive with increasing age. There is a significant correlation between the degree of hearing loss and genotype, renal function, and age. X-linked Alport syndrome (dpeaa)DE-He213 Hearing features (dpeaa)DE-He213 Gene mutation (dpeaa)DE-He213 Zhang, Yanqin aut Zhang, Yanmei aut Gu, Hongbo aut Chen, Zhe aut Ren, Lei aut Lu, Xingxing aut Chen, Li aut Wang, Fang aut Liu, Yuhe aut Ding, Jie aut Enthalten in Orphanet journal of rare diseases London : BioMed Central, 2006 13(2018), 1 vom: 22. Dez. (DE-627)50900637X (DE-600)2225857-7 1750-1172 nnns volume:13 year:2018 number:1 day:22 month:12 https://dx.doi.org/10.1186/s13023-018-0974-4 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 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 13 2018 1 22 12
allfieldsSound	10.1186/s13023-018-0974-4 doi (DE-627)SPR029501504 (SPR)s13023-018-0974-4-e DE-627 ger DE-627 rakwb eng Zhang, Xiao verfasserin aut X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males 2018 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2018 Objective To analyze the clinical audiological characteristics of X-Linked Alport syndrome (XLAS) in males and their relationships with genotypes. Methods The clinical data of 87 male patients with AS were reviewed. Hearing levels were evaluated using pure tone audiometry (PTA) testing, acoustic immittance, and otoacoustic emissions (OAE) testing. The genotypes of COL4A5 and the pathogenic variants were analyzed. The relationships between auditory phenotypes and genotypes were analyzed. Results Among the 87 patients, the number of patients with normal hearing and hearing loss were 32 and 55, respectively. In all cases, the hearing loss was characterized as bilateral symmetrical sensorineural deafness. Majority of the patients had mild-to-moderate hearing loss. Hearing loss usually started in the middle frequency range and gradually affected high frequencies, at school age and gradually increased with increasing age. However, it maintained a relatively steady level of 50–60 dB HL during the teenage years. The audiometric curves included groove-type in 51 cases (92.73%). Patients were identified to have 60 different COL4A5 pathogenic variants. Of the 49 patients who were followed-up for more than 2 years, 28 cases presented a decreasing trend in the hearing level of about 5 dB per year. The degree of hearing loss was positively correlated with gene mutation type and renal function. Conclusions Hearing loss in males with XLAS is symmetrical sensorineural, and progressive with increasing age. There is a significant correlation between the degree of hearing loss and genotype, renal function, and age. X-linked Alport syndrome (dpeaa)DE-He213 Hearing features (dpeaa)DE-He213 Gene mutation (dpeaa)DE-He213 Zhang, Yanqin aut Zhang, Yanmei aut Gu, Hongbo aut Chen, Zhe aut Ren, Lei aut Lu, Xingxing aut Chen, Li aut Wang, Fang aut Liu, Yuhe aut Ding, Jie aut Enthalten in Orphanet journal of rare diseases London : BioMed Central, 2006 13(2018), 1 vom: 22. Dez. (DE-627)50900637X (DE-600)2225857-7 1750-1172 nnns volume:13 year:2018 number:1 day:22 month:12 https://dx.doi.org/10.1186/s13023-018-0974-4 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 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 13 2018 1 22 12
language	English
source	Enthalten in Orphanet journal of rare diseases 13(2018), 1 vom: 22. Dez. volume:13 year:2018 number:1 day:22 month:12
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authorswithroles_txt_mv	Zhang, Xiao @@aut@@ Zhang, Yanqin @@aut@@ Zhang, Yanmei @@aut@@ Gu, Hongbo @@aut@@ Chen, Zhe @@aut@@ Ren, Lei @@aut@@ Lu, Xingxing @@aut@@ Chen, Li @@aut@@ Wang, Fang @@aut@@ Liu, Yuhe @@aut@@ Ding, Jie @@aut@@
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Methods The clinical data of 87 male patients with AS were reviewed. Hearing levels were evaluated using pure tone audiometry (PTA) testing, acoustic immittance, and otoacoustic emissions (OAE) testing. The genotypes of COL4A5 and the pathogenic variants were analyzed. The relationships between auditory phenotypes and genotypes were analyzed. Results Among the 87 patients, the number of patients with normal hearing and hearing loss were 32 and 55, respectively. In all cases, the hearing loss was characterized as bilateral symmetrical sensorineural deafness. Majority of the patients had mild-to-moderate hearing loss. Hearing loss usually started in the middle frequency range and gradually affected high frequencies, at school age and gradually increased with increasing age. However, it maintained a relatively steady level of 50–60 dB HL during the teenage years. The audiometric curves included groove-type in 51 cases (92.73%). Patients were identified to have 60 different COL4A5 pathogenic variants. Of the 49 patients who were followed-up for more than 2 years, 28 cases presented a decreasing trend in the hearing level of about 5 dB per year. The degree of hearing loss was positively correlated with gene mutation type and renal function. Conclusions Hearing loss in males with XLAS is symmetrical sensorineural, and progressive with increasing age. 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author	Zhang, Xiao
spellingShingle	Zhang, Xiao misc X-linked Alport syndrome misc Hearing features misc Gene mutation X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males
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topic_title	X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males X-linked Alport syndrome (dpeaa)DE-He213 Hearing features (dpeaa)DE-He213 Gene mutation (dpeaa)DE-He213
topic	misc X-linked Alport syndrome misc Hearing features misc Gene mutation
topic_unstemmed	misc X-linked Alport syndrome misc Hearing features misc Gene mutation
topic_browse	misc X-linked Alport syndrome misc Hearing features misc Gene mutation
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title	X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males
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title_full	X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males
author_sort	Zhang, Xiao
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author_browse	Zhang, Xiao Zhang, Yanqin Zhang, Yanmei Gu, Hongbo Chen, Zhe Ren, Lei Lu, Xingxing Chen, Li Wang, Fang Liu, Yuhe Ding, Jie
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format_se	Elektronische Aufsätze
author-letter	Zhang, Xiao
doi_str_mv	10.1186/s13023-018-0974-4
title_sort	x-linked alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males
title_auth	X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males
abstract	Objective To analyze the clinical audiological characteristics of X-Linked Alport syndrome (XLAS) in males and their relationships with genotypes. Methods The clinical data of 87 male patients with AS were reviewed. Hearing levels were evaluated using pure tone audiometry (PTA) testing, acoustic immittance, and otoacoustic emissions (OAE) testing. The genotypes of COL4A5 and the pathogenic variants were analyzed. The relationships between auditory phenotypes and genotypes were analyzed. Results Among the 87 patients, the number of patients with normal hearing and hearing loss were 32 and 55, respectively. In all cases, the hearing loss was characterized as bilateral symmetrical sensorineural deafness. Majority of the patients had mild-to-moderate hearing loss. Hearing loss usually started in the middle frequency range and gradually affected high frequencies, at school age and gradually increased with increasing age. However, it maintained a relatively steady level of 50–60 dB HL during the teenage years. The audiometric curves included groove-type in 51 cases (92.73%). Patients were identified to have 60 different COL4A5 pathogenic variants. Of the 49 patients who were followed-up for more than 2 years, 28 cases presented a decreasing trend in the hearing level of about 5 dB per year. The degree of hearing loss was positively correlated with gene mutation type and renal function. Conclusions Hearing loss in males with XLAS is symmetrical sensorineural, and progressive with increasing age. There is a significant correlation between the degree of hearing loss and genotype, renal function, and age. © The Author(s). 2018
abstractGer	Objective To analyze the clinical audiological characteristics of X-Linked Alport syndrome (XLAS) in males and their relationships with genotypes. Methods The clinical data of 87 male patients with AS were reviewed. Hearing levels were evaluated using pure tone audiometry (PTA) testing, acoustic immittance, and otoacoustic emissions (OAE) testing. The genotypes of COL4A5 and the pathogenic variants were analyzed. The relationships between auditory phenotypes and genotypes were analyzed. Results Among the 87 patients, the number of patients with normal hearing and hearing loss were 32 and 55, respectively. In all cases, the hearing loss was characterized as bilateral symmetrical sensorineural deafness. Majority of the patients had mild-to-moderate hearing loss. Hearing loss usually started in the middle frequency range and gradually affected high frequencies, at school age and gradually increased with increasing age. However, it maintained a relatively steady level of 50–60 dB HL during the teenage years. The audiometric curves included groove-type in 51 cases (92.73%). Patients were identified to have 60 different COL4A5 pathogenic variants. Of the 49 patients who were followed-up for more than 2 years, 28 cases presented a decreasing trend in the hearing level of about 5 dB per year. The degree of hearing loss was positively correlated with gene mutation type and renal function. Conclusions Hearing loss in males with XLAS is symmetrical sensorineural, and progressive with increasing age. There is a significant correlation between the degree of hearing loss and genotype, renal function, and age. © The Author(s). 2018
abstract_unstemmed	Objective To analyze the clinical audiological characteristics of X-Linked Alport syndrome (XLAS) in males and their relationships with genotypes. Methods The clinical data of 87 male patients with AS were reviewed. Hearing levels were evaluated using pure tone audiometry (PTA) testing, acoustic immittance, and otoacoustic emissions (OAE) testing. The genotypes of COL4A5 and the pathogenic variants were analyzed. The relationships between auditory phenotypes and genotypes were analyzed. Results Among the 87 patients, the number of patients with normal hearing and hearing loss were 32 and 55, respectively. In all cases, the hearing loss was characterized as bilateral symmetrical sensorineural deafness. Majority of the patients had mild-to-moderate hearing loss. Hearing loss usually started in the middle frequency range and gradually affected high frequencies, at school age and gradually increased with increasing age. However, it maintained a relatively steady level of 50–60 dB HL during the teenage years. The audiometric curves included groove-type in 51 cases (92.73%). Patients were identified to have 60 different COL4A5 pathogenic variants. Of the 49 patients who were followed-up for more than 2 years, 28 cases presented a decreasing trend in the hearing level of about 5 dB per year. The degree of hearing loss was positively correlated with gene mutation type and renal function. Conclusions Hearing loss in males with XLAS is symmetrical sensorineural, and progressive with increasing age. There is a significant correlation between the degree of hearing loss and genotype, renal function, and age. © The Author(s). 2018
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title_short	X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males
url	https://dx.doi.org/10.1186/s13023-018-0974-4
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author2	Zhang, Yanqin Zhang, Yanmei Gu, Hongbo Chen, Zhe Ren, Lei Lu, Xingxing Chen, Li Wang, Fang Liu, Yuhe Ding, Jie
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up_date	2024-07-04T01:14:30.570Z
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Patients were identified to have 60 different COL4A5 pathogenic variants. Of the 49 patients who were followed-up for more than 2 years, 28 cases presented a decreasing trend in the hearing level of about 5 dB per year. The degree of hearing loss was positively correlated with gene mutation type and renal function. Conclusions Hearing loss in males with XLAS is symmetrical sensorineural, and progressive with increasing age. 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X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males

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