Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report

Background Low-frequency nonsyndromic hearing loss (LF-NSHL) is a rare, inherited disorder. Here, we report a family with LF-NSHL in whom a missense mutation was found in the Wolfram syndrome 1 (WFS1) gene. Case presentation Family members underwent audiological and imaging evaluations, including pu...
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Autor*in:	Choi, Hye Ji [verfasserIn] Lee, Joon Suk Yu, Seyoung Cha, Do Hyeon Gee, Heon Yung Choi, Jae Young Lee, Jong Dae Jung, Jinsei

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2017

Schlagwörter:	Low-frequency hearing loss Nonsyndromic hearing loss Autosomal dominant

Anmerkung:	© The Author(s). 2017

Übergeordnetes Werk:	Enthalten in: BMC medical genetics - London : BioMed Central, 2000, 18(2017), 1 vom: 19. Dez.
Übergeordnetes Werk:	volume:18 ; year:2017 ; number:1 ; day:19 ; month:12

Links:	Volltext

DOI / URN:	10.1186/s12881-017-0511-7

Katalog-ID:	SPR027498123

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520			\|a Background Low-frequency nonsyndromic hearing loss (LF-NSHL) is a rare, inherited disorder. Here, we report a family with LF-NSHL in whom a missense mutation was found in the Wolfram syndrome 1 (WFS1) gene. Case presentation Family members underwent audiological and imaging evaluations, including pure tone audiometry and temporal bone computed tomography. Blood samples were collected from two affected and two unaffected subjects. To determine the genetic background of hearing loss in this family, genetic analysis was performed using whole-exome sequencing. Among 553 missense variants, c.2419A → C (p.Ser807Arg) in WFS1 remained after filtering and inspection of whole-exome sequencing data. This missense mutation segregated with affected status and demonstrated an alteration to an evolutionarily conserved amino acid residue. Audiological evaluation of the affected subjects revealed nonprogressive LF-NSHL, with early onset at 10 years of age, but not to a profound level. Conclusion This is the second report to describe a pathological mutation in WFS1 among Korean patients and the second to describe the mutation in a different ethnic background. Given that the mutation was found in independent families, p.S807R possibly appears to be a “hot spot” in WFS1, which is associated with LF-NSHL.
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author_variant	h j c hj hjc j s l js jsl s y sy d h c dh dhc h y g hy hyg j y c jy jyc j d l jd jdl j j jj
matchkey_str	article:14712350:2017----::hleoeeunigdniidmsesmttoiwscuigofeu
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allfields	10.1186/s12881-017-0511-7 doi (DE-627)SPR027498123 (SPR)s12881-017-0511-7-e DE-627 ger DE-627 rakwb eng Choi, Hye Ji verfasserin aut Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2017 Background Low-frequency nonsyndromic hearing loss (LF-NSHL) is a rare, inherited disorder. Here, we report a family with LF-NSHL in whom a missense mutation was found in the Wolfram syndrome 1 (WFS1) gene. Case presentation Family members underwent audiological and imaging evaluations, including pure tone audiometry and temporal bone computed tomography. Blood samples were collected from two affected and two unaffected subjects. To determine the genetic background of hearing loss in this family, genetic analysis was performed using whole-exome sequencing. Among 553 missense variants, c.2419A → C (p.Ser807Arg) in WFS1 remained after filtering and inspection of whole-exome sequencing data. This missense mutation segregated with affected status and demonstrated an alteration to an evolutionarily conserved amino acid residue. Audiological evaluation of the affected subjects revealed nonprogressive LF-NSHL, with early onset at 10 years of age, but not to a profound level. Conclusion This is the second report to describe a pathological mutation in WFS1 among Korean patients and the second to describe the mutation in a different ethnic background. Given that the mutation was found in independent families, p.S807R possibly appears to be a “hot spot” in WFS1, which is associated with LF-NSHL. Low-frequency hearing loss (dpeaa)DE-He213 Nonsyndromic hearing loss (dpeaa)DE-He213 Autosomal dominant (dpeaa)DE-He213 Lee, Joon Suk aut Yu, Seyoung aut Cha, Do Hyeon aut Gee, Heon Yung aut Choi, Jae Young aut Lee, Jong Dae aut Jung, Jinsei (orcid)0000-0003-1906-6969 aut Enthalten in BMC medical genetics London : BioMed Central, 2000 18(2017), 1 vom: 19. Dez. (DE-627)326643788 (DE-600)2041359-2 1471-2350 nnns volume:18 year:2017 number:1 day:19 month:12 https://dx.doi.org/10.1186/s12881-017-0511-7 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA 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_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 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 18 2017 1 19 12
spelling	10.1186/s12881-017-0511-7 doi (DE-627)SPR027498123 (SPR)s12881-017-0511-7-e DE-627 ger DE-627 rakwb eng Choi, Hye Ji verfasserin aut Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2017 Background Low-frequency nonsyndromic hearing loss (LF-NSHL) is a rare, inherited disorder. Here, we report a family with LF-NSHL in whom a missense mutation was found in the Wolfram syndrome 1 (WFS1) gene. Case presentation Family members underwent audiological and imaging evaluations, including pure tone audiometry and temporal bone computed tomography. Blood samples were collected from two affected and two unaffected subjects. To determine the genetic background of hearing loss in this family, genetic analysis was performed using whole-exome sequencing. Among 553 missense variants, c.2419A → C (p.Ser807Arg) in WFS1 remained after filtering and inspection of whole-exome sequencing data. This missense mutation segregated with affected status and demonstrated an alteration to an evolutionarily conserved amino acid residue. Audiological evaluation of the affected subjects revealed nonprogressive LF-NSHL, with early onset at 10 years of age, but not to a profound level. Conclusion This is the second report to describe a pathological mutation in WFS1 among Korean patients and the second to describe the mutation in a different ethnic background. Given that the mutation was found in independent families, p.S807R possibly appears to be a “hot spot” in WFS1, which is associated with LF-NSHL. Low-frequency hearing loss (dpeaa)DE-He213 Nonsyndromic hearing loss (dpeaa)DE-He213 Autosomal dominant (dpeaa)DE-He213 Lee, Joon Suk aut Yu, Seyoung aut Cha, Do Hyeon aut Gee, Heon Yung aut Choi, Jae Young aut Lee, Jong Dae aut Jung, Jinsei (orcid)0000-0003-1906-6969 aut Enthalten in BMC medical genetics London : BioMed Central, 2000 18(2017), 1 vom: 19. Dez. (DE-627)326643788 (DE-600)2041359-2 1471-2350 nnns volume:18 year:2017 number:1 day:19 month:12 https://dx.doi.org/10.1186/s12881-017-0511-7 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA 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_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 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 18 2017 1 19 12
allfields_unstemmed	10.1186/s12881-017-0511-7 doi (DE-627)SPR027498123 (SPR)s12881-017-0511-7-e DE-627 ger DE-627 rakwb eng Choi, Hye Ji verfasserin aut Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2017 Background Low-frequency nonsyndromic hearing loss (LF-NSHL) is a rare, inherited disorder. Here, we report a family with LF-NSHL in whom a missense mutation was found in the Wolfram syndrome 1 (WFS1) gene. Case presentation Family members underwent audiological and imaging evaluations, including pure tone audiometry and temporal bone computed tomography. Blood samples were collected from two affected and two unaffected subjects. To determine the genetic background of hearing loss in this family, genetic analysis was performed using whole-exome sequencing. Among 553 missense variants, c.2419A → C (p.Ser807Arg) in WFS1 remained after filtering and inspection of whole-exome sequencing data. This missense mutation segregated with affected status and demonstrated an alteration to an evolutionarily conserved amino acid residue. Audiological evaluation of the affected subjects revealed nonprogressive LF-NSHL, with early onset at 10 years of age, but not to a profound level. Conclusion This is the second report to describe a pathological mutation in WFS1 among Korean patients and the second to describe the mutation in a different ethnic background. Given that the mutation was found in independent families, p.S807R possibly appears to be a “hot spot” in WFS1, which is associated with LF-NSHL. Low-frequency hearing loss (dpeaa)DE-He213 Nonsyndromic hearing loss (dpeaa)DE-He213 Autosomal dominant (dpeaa)DE-He213 Lee, Joon Suk aut Yu, Seyoung aut Cha, Do Hyeon aut Gee, Heon Yung aut Choi, Jae Young aut Lee, Jong Dae aut Jung, Jinsei (orcid)0000-0003-1906-6969 aut Enthalten in BMC medical genetics London : BioMed Central, 2000 18(2017), 1 vom: 19. Dez. (DE-627)326643788 (DE-600)2041359-2 1471-2350 nnns volume:18 year:2017 number:1 day:19 month:12 https://dx.doi.org/10.1186/s12881-017-0511-7 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA 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_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 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 18 2017 1 19 12
allfieldsGer	10.1186/s12881-017-0511-7 doi (DE-627)SPR027498123 (SPR)s12881-017-0511-7-e DE-627 ger DE-627 rakwb eng Choi, Hye Ji verfasserin aut Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2017 Background Low-frequency nonsyndromic hearing loss (LF-NSHL) is a rare, inherited disorder. Here, we report a family with LF-NSHL in whom a missense mutation was found in the Wolfram syndrome 1 (WFS1) gene. Case presentation Family members underwent audiological and imaging evaluations, including pure tone audiometry and temporal bone computed tomography. Blood samples were collected from two affected and two unaffected subjects. To determine the genetic background of hearing loss in this family, genetic analysis was performed using whole-exome sequencing. Among 553 missense variants, c.2419A → C (p.Ser807Arg) in WFS1 remained after filtering and inspection of whole-exome sequencing data. This missense mutation segregated with affected status and demonstrated an alteration to an evolutionarily conserved amino acid residue. Audiological evaluation of the affected subjects revealed nonprogressive LF-NSHL, with early onset at 10 years of age, but not to a profound level. Conclusion This is the second report to describe a pathological mutation in WFS1 among Korean patients and the second to describe the mutation in a different ethnic background. Given that the mutation was found in independent families, p.S807R possibly appears to be a “hot spot” in WFS1, which is associated with LF-NSHL. Low-frequency hearing loss (dpeaa)DE-He213 Nonsyndromic hearing loss (dpeaa)DE-He213 Autosomal dominant (dpeaa)DE-He213 Lee, Joon Suk aut Yu, Seyoung aut Cha, Do Hyeon aut Gee, Heon Yung aut Choi, Jae Young aut Lee, Jong Dae aut Jung, Jinsei (orcid)0000-0003-1906-6969 aut Enthalten in BMC medical genetics London : BioMed Central, 2000 18(2017), 1 vom: 19. Dez. (DE-627)326643788 (DE-600)2041359-2 1471-2350 nnns volume:18 year:2017 number:1 day:19 month:12 https://dx.doi.org/10.1186/s12881-017-0511-7 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA 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_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 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 18 2017 1 19 12
allfieldsSound	10.1186/s12881-017-0511-7 doi (DE-627)SPR027498123 (SPR)s12881-017-0511-7-e DE-627 ger DE-627 rakwb eng Choi, Hye Ji verfasserin aut Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2017 Background Low-frequency nonsyndromic hearing loss (LF-NSHL) is a rare, inherited disorder. Here, we report a family with LF-NSHL in whom a missense mutation was found in the Wolfram syndrome 1 (WFS1) gene. Case presentation Family members underwent audiological and imaging evaluations, including pure tone audiometry and temporal bone computed tomography. Blood samples were collected from two affected and two unaffected subjects. To determine the genetic background of hearing loss in this family, genetic analysis was performed using whole-exome sequencing. Among 553 missense variants, c.2419A → C (p.Ser807Arg) in WFS1 remained after filtering and inspection of whole-exome sequencing data. This missense mutation segregated with affected status and demonstrated an alteration to an evolutionarily conserved amino acid residue. Audiological evaluation of the affected subjects revealed nonprogressive LF-NSHL, with early onset at 10 years of age, but not to a profound level. Conclusion This is the second report to describe a pathological mutation in WFS1 among Korean patients and the second to describe the mutation in a different ethnic background. Given that the mutation was found in independent families, p.S807R possibly appears to be a “hot spot” in WFS1, which is associated with LF-NSHL. Low-frequency hearing loss (dpeaa)DE-He213 Nonsyndromic hearing loss (dpeaa)DE-He213 Autosomal dominant (dpeaa)DE-He213 Lee, Joon Suk aut Yu, Seyoung aut Cha, Do Hyeon aut Gee, Heon Yung aut Choi, Jae Young aut Lee, Jong Dae aut Jung, Jinsei (orcid)0000-0003-1906-6969 aut Enthalten in BMC medical genetics London : BioMed Central, 2000 18(2017), 1 vom: 19. Dez. (DE-627)326643788 (DE-600)2041359-2 1471-2350 nnns volume:18 year:2017 number:1 day:19 month:12 https://dx.doi.org/10.1186/s12881-017-0511-7 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA 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_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 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 18 2017 1 19 12
language	English
source	Enthalten in BMC medical genetics 18(2017), 1 vom: 19. Dez. volume:18 year:2017 number:1 day:19 month:12
sourceStr	Enthalten in BMC medical genetics 18(2017), 1 vom: 19. Dez. volume:18 year:2017 number:1 day:19 month:12
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	Low-frequency hearing loss Nonsyndromic hearing loss Autosomal dominant
isfreeaccess_bool	true
container_title	BMC medical genetics
authorswithroles_txt_mv	Choi, Hye Ji @@aut@@ Lee, Joon Suk @@aut@@ Yu, Seyoung @@aut@@ Cha, Do Hyeon @@aut@@ Gee, Heon Yung @@aut@@ Choi, Jae Young @@aut@@ Lee, Jong Dae @@aut@@ Jung, Jinsei @@aut@@
publishDateDaySort_date	2017-12-19T00:00:00Z
hierarchy_top_id	326643788
id	SPR027498123
language_de	englisch
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author	Choi, Hye Ji
spellingShingle	Choi, Hye Ji misc Low-frequency hearing loss misc Nonsyndromic hearing loss misc Autosomal dominant Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report
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topic_title	Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report Low-frequency hearing loss (dpeaa)DE-He213 Nonsyndromic hearing loss (dpeaa)DE-He213 Autosomal dominant (dpeaa)DE-He213
topic	misc Low-frequency hearing loss misc Nonsyndromic hearing loss misc Autosomal dominant
topic_unstemmed	misc Low-frequency hearing loss misc Nonsyndromic hearing loss misc Autosomal dominant
topic_browse	misc Low-frequency hearing loss misc Nonsyndromic hearing loss misc Autosomal dominant
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title	Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report
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title_full	Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report
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author_browse	Choi, Hye Ji Lee, Joon Suk Yu, Seyoung Cha, Do Hyeon Gee, Heon Yung Choi, Jae Young Lee, Jong Dae Jung, Jinsei
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title_sort	whole-exome sequencing identified a missense mutation in wfs1 causing low-frequency hearing loss: a case report
title_auth	Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report
abstract	Background Low-frequency nonsyndromic hearing loss (LF-NSHL) is a rare, inherited disorder. Here, we report a family with LF-NSHL in whom a missense mutation was found in the Wolfram syndrome 1 (WFS1) gene. Case presentation Family members underwent audiological and imaging evaluations, including pure tone audiometry and temporal bone computed tomography. Blood samples were collected from two affected and two unaffected subjects. To determine the genetic background of hearing loss in this family, genetic analysis was performed using whole-exome sequencing. Among 553 missense variants, c.2419A → C (p.Ser807Arg) in WFS1 remained after filtering and inspection of whole-exome sequencing data. This missense mutation segregated with affected status and demonstrated an alteration to an evolutionarily conserved amino acid residue. Audiological evaluation of the affected subjects revealed nonprogressive LF-NSHL, with early onset at 10 years of age, but not to a profound level. Conclusion This is the second report to describe a pathological mutation in WFS1 among Korean patients and the second to describe the mutation in a different ethnic background. Given that the mutation was found in independent families, p.S807R possibly appears to be a “hot spot” in WFS1, which is associated with LF-NSHL. © The Author(s). 2017
abstractGer	Background Low-frequency nonsyndromic hearing loss (LF-NSHL) is a rare, inherited disorder. Here, we report a family with LF-NSHL in whom a missense mutation was found in the Wolfram syndrome 1 (WFS1) gene. Case presentation Family members underwent audiological and imaging evaluations, including pure tone audiometry and temporal bone computed tomography. Blood samples were collected from two affected and two unaffected subjects. To determine the genetic background of hearing loss in this family, genetic analysis was performed using whole-exome sequencing. Among 553 missense variants, c.2419A → C (p.Ser807Arg) in WFS1 remained after filtering and inspection of whole-exome sequencing data. This missense mutation segregated with affected status and demonstrated an alteration to an evolutionarily conserved amino acid residue. Audiological evaluation of the affected subjects revealed nonprogressive LF-NSHL, with early onset at 10 years of age, but not to a profound level. Conclusion This is the second report to describe a pathological mutation in WFS1 among Korean patients and the second to describe the mutation in a different ethnic background. Given that the mutation was found in independent families, p.S807R possibly appears to be a “hot spot” in WFS1, which is associated with LF-NSHL. © The Author(s). 2017
abstract_unstemmed	Background Low-frequency nonsyndromic hearing loss (LF-NSHL) is a rare, inherited disorder. Here, we report a family with LF-NSHL in whom a missense mutation was found in the Wolfram syndrome 1 (WFS1) gene. Case presentation Family members underwent audiological and imaging evaluations, including pure tone audiometry and temporal bone computed tomography. Blood samples were collected from two affected and two unaffected subjects. To determine the genetic background of hearing loss in this family, genetic analysis was performed using whole-exome sequencing. Among 553 missense variants, c.2419A → C (p.Ser807Arg) in WFS1 remained after filtering and inspection of whole-exome sequencing data. This missense mutation segregated with affected status and demonstrated an alteration to an evolutionarily conserved amino acid residue. Audiological evaluation of the affected subjects revealed nonprogressive LF-NSHL, with early onset at 10 years of age, but not to a profound level. Conclusion This is the second report to describe a pathological mutation in WFS1 among Korean patients and the second to describe the mutation in a different ethnic background. Given that the mutation was found in independent families, p.S807R possibly appears to be a “hot spot” in WFS1, which is associated with LF-NSHL. © The Author(s). 2017
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title_short	Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report
url	https://dx.doi.org/10.1186/s12881-017-0511-7
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author2	Lee, Joon Suk Yu, Seyoung Cha, Do Hyeon Gee, Heon Yung Choi, Jae Young Lee, Jong Dae Jung, Jinsei
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