Association of familial macular degeneration with specific genetic markers: a case report

Introduction Age-related macular degeneration is a serious visual disorder of the central retina and was recently reported to be associated with genetic background. Here we describe a genetic link to early onset age-related macular degeneration in members of an Asian family. Case presentation A 73-y...
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Autor*in:	Takayanagi, Yoshinori [verfasserIn] Ashida, Masami Go, Mayumi Gunji, Mai Sato, Izuru Kato, Shigeaki Miyashita, Masato

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2015

Schlagwörter:	Age-related macular degeneration gene Susceptibility gene locus

Anmerkung:	© Takayanagi et al. 2015

Übergeordnetes Werk:	Enthalten in: Journal of medical case reports - London : BioMed Central, 2007, 9(2015), 1 vom: 24. Nov.
Übergeordnetes Werk:	volume:9 ; year:2015 ; number:1 ; day:24 ; month:11

Links:	Volltext

DOI / URN:	10.1186/s13256-015-0765-7

Katalog-ID:	SPR031061214

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520			\|a Introduction Age-related macular degeneration is a serious visual disorder of the central retina and was recently reported to be associated with genetic background. Here we describe a genetic link to early onset age-related macular degeneration in members of an Asian family. Case presentation A 73-year-old Asian woman developed age-related macular degeneration in the fifth decade of her life and her 49-year-old daughter developed age-related macular degeneration. Because of the family history and the early onset, family members were tested for two single nucleotide polymorphism variants (rs10490924 and rs11200638) at a recently identified susceptibility locus for age-related macular degeneration. Both alleles in the 73-year-old woman were of the high-risk variants (T/T for rs10490924 and A/A for rs11200638), and her two daughters and a grandson each carried the risk variants (T and A) one on each allele. Conclusions In a case where multiple family members had early onset age-related macular degeneration, we found two high-risk single nucleotide polymorphism variants in the age-related macular degeneration susceptibility locus, suggesting the combination of the known single nucleotide polymorphism variants as a potent age-related macular degeneration diagnostic indicator.
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allfields	10.1186/s13256-015-0765-7 doi (DE-627)SPR031061214 (SPR)s13256-015-0765-7-e DE-627 ger DE-627 rakwb eng Takayanagi, Yoshinori verfasserin aut Association of familial macular degeneration with specific genetic markers: a case report 2015 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Takayanagi et al. 2015 Introduction Age-related macular degeneration is a serious visual disorder of the central retina and was recently reported to be associated with genetic background. Here we describe a genetic link to early onset age-related macular degeneration in members of an Asian family. Case presentation A 73-year-old Asian woman developed age-related macular degeneration in the fifth decade of her life and her 49-year-old daughter developed age-related macular degeneration. Because of the family history and the early onset, family members were tested for two single nucleotide polymorphism variants (rs10490924 and rs11200638) at a recently identified susceptibility locus for age-related macular degeneration. Both alleles in the 73-year-old woman were of the high-risk variants (T/T for rs10490924 and A/A for rs11200638), and her two daughters and a grandson each carried the risk variants (T and A) one on each allele. Conclusions In a case where multiple family members had early onset age-related macular degeneration, we found two high-risk single nucleotide polymorphism variants in the age-related macular degeneration susceptibility locus, suggesting the combination of the known single nucleotide polymorphism variants as a potent age-related macular degeneration diagnostic indicator. Age-related macular degeneration (dpeaa)DE-He213 gene (dpeaa)DE-He213 Susceptibility gene locus (dpeaa)DE-He213 Ashida, Masami aut Go, Mayumi aut Gunji, Mai aut Sato, Izuru aut Kato, Shigeaki aut Miyashita, Masato aut Enthalten in Journal of medical case reports London : BioMed Central, 2007 9(2015), 1 vom: 24. Nov. (DE-627)524231389 (DE-600)2269805-X 1752-1947 nnns volume:9 year:2015 number:1 day:24 month:11 https://dx.doi.org/10.1186/s13256-015-0765-7 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_2522 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 9 2015 1 24 11
spelling	10.1186/s13256-015-0765-7 doi (DE-627)SPR031061214 (SPR)s13256-015-0765-7-e DE-627 ger DE-627 rakwb eng Takayanagi, Yoshinori verfasserin aut Association of familial macular degeneration with specific genetic markers: a case report 2015 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Takayanagi et al. 2015 Introduction Age-related macular degeneration is a serious visual disorder of the central retina and was recently reported to be associated with genetic background. Here we describe a genetic link to early onset age-related macular degeneration in members of an Asian family. Case presentation A 73-year-old Asian woman developed age-related macular degeneration in the fifth decade of her life and her 49-year-old daughter developed age-related macular degeneration. Because of the family history and the early onset, family members were tested for two single nucleotide polymorphism variants (rs10490924 and rs11200638) at a recently identified susceptibility locus for age-related macular degeneration. Both alleles in the 73-year-old woman were of the high-risk variants (T/T for rs10490924 and A/A for rs11200638), and her two daughters and a grandson each carried the risk variants (T and A) one on each allele. Conclusions In a case where multiple family members had early onset age-related macular degeneration, we found two high-risk single nucleotide polymorphism variants in the age-related macular degeneration susceptibility locus, suggesting the combination of the known single nucleotide polymorphism variants as a potent age-related macular degeneration diagnostic indicator. Age-related macular degeneration (dpeaa)DE-He213 gene (dpeaa)DE-He213 Susceptibility gene locus (dpeaa)DE-He213 Ashida, Masami aut Go, Mayumi aut Gunji, Mai aut Sato, Izuru aut Kato, Shigeaki aut Miyashita, Masato aut Enthalten in Journal of medical case reports London : BioMed Central, 2007 9(2015), 1 vom: 24. Nov. (DE-627)524231389 (DE-600)2269805-X 1752-1947 nnns volume:9 year:2015 number:1 day:24 month:11 https://dx.doi.org/10.1186/s13256-015-0765-7 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_2522 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 9 2015 1 24 11
allfields_unstemmed	10.1186/s13256-015-0765-7 doi (DE-627)SPR031061214 (SPR)s13256-015-0765-7-e DE-627 ger DE-627 rakwb eng Takayanagi, Yoshinori verfasserin aut Association of familial macular degeneration with specific genetic markers: a case report 2015 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Takayanagi et al. 2015 Introduction Age-related macular degeneration is a serious visual disorder of the central retina and was recently reported to be associated with genetic background. Here we describe a genetic link to early onset age-related macular degeneration in members of an Asian family. Case presentation A 73-year-old Asian woman developed age-related macular degeneration in the fifth decade of her life and her 49-year-old daughter developed age-related macular degeneration. Because of the family history and the early onset, family members were tested for two single nucleotide polymorphism variants (rs10490924 and rs11200638) at a recently identified susceptibility locus for age-related macular degeneration. Both alleles in the 73-year-old woman were of the high-risk variants (T/T for rs10490924 and A/A for rs11200638), and her two daughters and a grandson each carried the risk variants (T and A) one on each allele. Conclusions In a case where multiple family members had early onset age-related macular degeneration, we found two high-risk single nucleotide polymorphism variants in the age-related macular degeneration susceptibility locus, suggesting the combination of the known single nucleotide polymorphism variants as a potent age-related macular degeneration diagnostic indicator. Age-related macular degeneration (dpeaa)DE-He213 gene (dpeaa)DE-He213 Susceptibility gene locus (dpeaa)DE-He213 Ashida, Masami aut Go, Mayumi aut Gunji, Mai aut Sato, Izuru aut Kato, Shigeaki aut Miyashita, Masato aut Enthalten in Journal of medical case reports London : BioMed Central, 2007 9(2015), 1 vom: 24. Nov. (DE-627)524231389 (DE-600)2269805-X 1752-1947 nnns volume:9 year:2015 number:1 day:24 month:11 https://dx.doi.org/10.1186/s13256-015-0765-7 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_2522 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 9 2015 1 24 11
allfieldsGer	10.1186/s13256-015-0765-7 doi (DE-627)SPR031061214 (SPR)s13256-015-0765-7-e DE-627 ger DE-627 rakwb eng Takayanagi, Yoshinori verfasserin aut Association of familial macular degeneration with specific genetic markers: a case report 2015 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Takayanagi et al. 2015 Introduction Age-related macular degeneration is a serious visual disorder of the central retina and was recently reported to be associated with genetic background. Here we describe a genetic link to early onset age-related macular degeneration in members of an Asian family. Case presentation A 73-year-old Asian woman developed age-related macular degeneration in the fifth decade of her life and her 49-year-old daughter developed age-related macular degeneration. Because of the family history and the early onset, family members were tested for two single nucleotide polymorphism variants (rs10490924 and rs11200638) at a recently identified susceptibility locus for age-related macular degeneration. Both alleles in the 73-year-old woman were of the high-risk variants (T/T for rs10490924 and A/A for rs11200638), and her two daughters and a grandson each carried the risk variants (T and A) one on each allele. Conclusions In a case where multiple family members had early onset age-related macular degeneration, we found two high-risk single nucleotide polymorphism variants in the age-related macular degeneration susceptibility locus, suggesting the combination of the known single nucleotide polymorphism variants as a potent age-related macular degeneration diagnostic indicator. Age-related macular degeneration (dpeaa)DE-He213 gene (dpeaa)DE-He213 Susceptibility gene locus (dpeaa)DE-He213 Ashida, Masami aut Go, Mayumi aut Gunji, Mai aut Sato, Izuru aut Kato, Shigeaki aut Miyashita, Masato aut Enthalten in Journal of medical case reports London : BioMed Central, 2007 9(2015), 1 vom: 24. Nov. (DE-627)524231389 (DE-600)2269805-X 1752-1947 nnns volume:9 year:2015 number:1 day:24 month:11 https://dx.doi.org/10.1186/s13256-015-0765-7 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_2522 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 9 2015 1 24 11
allfieldsSound	10.1186/s13256-015-0765-7 doi (DE-627)SPR031061214 (SPR)s13256-015-0765-7-e DE-627 ger DE-627 rakwb eng Takayanagi, Yoshinori verfasserin aut Association of familial macular degeneration with specific genetic markers: a case report 2015 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Takayanagi et al. 2015 Introduction Age-related macular degeneration is a serious visual disorder of the central retina and was recently reported to be associated with genetic background. Here we describe a genetic link to early onset age-related macular degeneration in members of an Asian family. Case presentation A 73-year-old Asian woman developed age-related macular degeneration in the fifth decade of her life and her 49-year-old daughter developed age-related macular degeneration. Because of the family history and the early onset, family members were tested for two single nucleotide polymorphism variants (rs10490924 and rs11200638) at a recently identified susceptibility locus for age-related macular degeneration. Both alleles in the 73-year-old woman were of the high-risk variants (T/T for rs10490924 and A/A for rs11200638), and her two daughters and a grandson each carried the risk variants (T and A) one on each allele. Conclusions In a case where multiple family members had early onset age-related macular degeneration, we found two high-risk single nucleotide polymorphism variants in the age-related macular degeneration susceptibility locus, suggesting the combination of the known single nucleotide polymorphism variants as a potent age-related macular degeneration diagnostic indicator. Age-related macular degeneration (dpeaa)DE-He213 gene (dpeaa)DE-He213 Susceptibility gene locus (dpeaa)DE-He213 Ashida, Masami aut Go, Mayumi aut Gunji, Mai aut Sato, Izuru aut Kato, Shigeaki aut Miyashita, Masato aut Enthalten in Journal of medical case reports London : BioMed Central, 2007 9(2015), 1 vom: 24. Nov. (DE-627)524231389 (DE-600)2269805-X 1752-1947 nnns volume:9 year:2015 number:1 day:24 month:11 https://dx.doi.org/10.1186/s13256-015-0765-7 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_2522 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 9 2015 1 24 11
language	English
source	Enthalten in Journal of medical case reports 9(2015), 1 vom: 24. Nov. volume:9 year:2015 number:1 day:24 month:11
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authorswithroles_txt_mv	Takayanagi, Yoshinori @@aut@@ Ashida, Masami @@aut@@ Go, Mayumi @@aut@@ Gunji, Mai @@aut@@ Sato, Izuru @@aut@@ Kato, Shigeaki @@aut@@ Miyashita, Masato @@aut@@
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Here we describe a genetic link to early onset age-related macular degeneration in members of an Asian family. Case presentation A 73-year-old Asian woman developed age-related macular degeneration in the fifth decade of her life and her 49-year-old daughter developed age-related macular degeneration. Because of the family history and the early onset, family members were tested for two single nucleotide polymorphism variants (rs10490924 and rs11200638) at a recently identified susceptibility locus for age-related macular degeneration. Both alleles in the 73-year-old woman were of the high-risk variants (T/T for rs10490924 and A/A for rs11200638), and her two daughters and a grandson each carried the risk variants (T and A) one on each allele. 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topic_title	Association of familial macular degeneration with specific genetic markers: a case report Age-related macular degeneration (dpeaa)DE-He213 gene (dpeaa)DE-He213 Susceptibility gene locus (dpeaa)DE-He213
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title	Association of familial macular degeneration with specific genetic markers: a case report
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title_full	Association of familial macular degeneration with specific genetic markers: a case report
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author_browse	Takayanagi, Yoshinori Ashida, Masami Go, Mayumi Gunji, Mai Sato, Izuru Kato, Shigeaki Miyashita, Masato
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title_sort	association of familial macular degeneration with specific genetic markers: a case report
title_auth	Association of familial macular degeneration with specific genetic markers: a case report
abstract	Introduction Age-related macular degeneration is a serious visual disorder of the central retina and was recently reported to be associated with genetic background. Here we describe a genetic link to early onset age-related macular degeneration in members of an Asian family. Case presentation A 73-year-old Asian woman developed age-related macular degeneration in the fifth decade of her life and her 49-year-old daughter developed age-related macular degeneration. Because of the family history and the early onset, family members were tested for two single nucleotide polymorphism variants (rs10490924 and rs11200638) at a recently identified susceptibility locus for age-related macular degeneration. Both alleles in the 73-year-old woman were of the high-risk variants (T/T for rs10490924 and A/A for rs11200638), and her two daughters and a grandson each carried the risk variants (T and A) one on each allele. Conclusions In a case where multiple family members had early onset age-related macular degeneration, we found two high-risk single nucleotide polymorphism variants in the age-related macular degeneration susceptibility locus, suggesting the combination of the known single nucleotide polymorphism variants as a potent age-related macular degeneration diagnostic indicator. © Takayanagi et al. 2015
abstractGer	Introduction Age-related macular degeneration is a serious visual disorder of the central retina and was recently reported to be associated with genetic background. Here we describe a genetic link to early onset age-related macular degeneration in members of an Asian family. Case presentation A 73-year-old Asian woman developed age-related macular degeneration in the fifth decade of her life and her 49-year-old daughter developed age-related macular degeneration. Because of the family history and the early onset, family members were tested for two single nucleotide polymorphism variants (rs10490924 and rs11200638) at a recently identified susceptibility locus for age-related macular degeneration. Both alleles in the 73-year-old woman were of the high-risk variants (T/T for rs10490924 and A/A for rs11200638), and her two daughters and a grandson each carried the risk variants (T and A) one on each allele. Conclusions In a case where multiple family members had early onset age-related macular degeneration, we found two high-risk single nucleotide polymorphism variants in the age-related macular degeneration susceptibility locus, suggesting the combination of the known single nucleotide polymorphism variants as a potent age-related macular degeneration diagnostic indicator. © Takayanagi et al. 2015
abstract_unstemmed	Introduction Age-related macular degeneration is a serious visual disorder of the central retina and was recently reported to be associated with genetic background. Here we describe a genetic link to early onset age-related macular degeneration in members of an Asian family. Case presentation A 73-year-old Asian woman developed age-related macular degeneration in the fifth decade of her life and her 49-year-old daughter developed age-related macular degeneration. Because of the family history and the early onset, family members were tested for two single nucleotide polymorphism variants (rs10490924 and rs11200638) at a recently identified susceptibility locus for age-related macular degeneration. Both alleles in the 73-year-old woman were of the high-risk variants (T/T for rs10490924 and A/A for rs11200638), and her two daughters and a grandson each carried the risk variants (T and A) one on each allele. Conclusions In a case where multiple family members had early onset age-related macular degeneration, we found two high-risk single nucleotide polymorphism variants in the age-related macular degeneration susceptibility locus, suggesting the combination of the known single nucleotide polymorphism variants as a potent age-related macular degeneration diagnostic indicator. © Takayanagi et al. 2015
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title_short	Association of familial macular degeneration with specific genetic markers: a case report
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Association of familial macular degeneration with specific genetic markers: a case report

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