Mutation spectrum of the bestrophin-1 gene in a large Chinese cohort with bestrophinopathy
BackgroundBestrophin-1 (BEST1) gene is associated with a wide range of ocular phenotypes, collectively termed as bestrophinopathy. The aim of the current study was to identify the mutation spectrum of BEST1 in a large cohort of Chinese patients with bestrophinopathy.MethodsPatients clinically suspec...
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Veröffentlicht in: | British journal of ophthalmology 2020-06, Vol.104 (6), p.846-851 |
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creator | Gao, Feng-Juan Qi, Yu-He Hu, Fang-Yuan Wang, Dan-Dan Xu, Ping Guo, Jing-Li Li, Jian-Kang Zhang, Yong-Jin Li, Wei Chen, Fang Xu, Ge-Zhi Liu, Wei Chang, Qing Wu, Ji-Hong |
description | BackgroundBestrophin-1 (BEST1) gene is associated with a wide range of ocular phenotypes, collectively termed as bestrophinopathy. The aim of the current study was to identify the mutation spectrum of BEST1 in a large cohort of Chinese patients with bestrophinopathy.MethodsPatients clinically suspected of bestrophinopathy were screened using multigene panel testing. All BEST1 variants were confirmed by Sanger sequencing, and validated in the families.FindingsA total of 92 patients (Best vitelliform macular dystrophy (BVMD)=77; autosomal recessive bestrophinopathy (ARB)=15) from 58 unrelated families of Chinese origin and their available family members (n=65) were recruited. Overall, 39 distinct disease-causing BEST1 variants were identified, including 13 novel variants, and two reported variants but novel for ARB. Of them, 14 were associated with ARB, 23 with BVMD and two (c.604C>T and c.898G>A) with both BVMD and ARB. Most mutations associated with BVMD were missense (97.78%), while ARB was associated with more complex mutations, including missense (88.46%), splicing effect (3.85%), and frameshifts (15.38%). BEST1 hotspots were c.898G>A and c.584C>T among BVMD and ARB patients, respectively. Hot regions were located in exons 8, 2 and 6 in BVMD patients, and in exons 5 and 7 in ARB patients. The overall penetrance of BEST1 in our cohort was 71.30%, no de novo mutations were identified.ConclusionThis is the largest study to date that provides major population-based data of the BEST1 mutation spectrum in China. Our results can serve as a well-founded reference for genetic counselling for patients with bestrophinopathy of Chinese origin. |
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The aim of the current study was to identify the mutation spectrum of BEST1 in a large cohort of Chinese patients with bestrophinopathy.MethodsPatients clinically suspected of bestrophinopathy were screened using multigene panel testing. All BEST1 variants were confirmed by Sanger sequencing, and validated in the families.FindingsA total of 92 patients (Best vitelliform macular dystrophy (BVMD)=77; autosomal recessive bestrophinopathy (ARB)=15) from 58 unrelated families of Chinese origin and their available family members (n=65) were recruited. Overall, 39 distinct disease-causing BEST1 variants were identified, including 13 novel variants, and two reported variants but novel for ARB. Of them, 14 were associated with ARB, 23 with BVMD and two (c.604C>T and c.898G>A) with both BVMD and ARB. Most mutations associated with BVMD were missense (97.78%), while ARB was associated with more complex mutations, including missense (88.46%), splicing effect (3.85%), and frameshifts (15.38%). BEST1 hotspots were c.898G>A and c.584C>T among BVMD and ARB patients, respectively. Hot regions were located in exons 8, 2 and 6 in BVMD patients, and in exons 5 and 7 in ARB patients. The overall penetrance of BEST1 in our cohort was 71.30%, no de novo mutations were identified.ConclusionThis is the largest study to date that provides major population-based data of the BEST1 mutation spectrum in China. Our results can serve as a well-founded reference for genetic counselling for patients with bestrophinopathy of Chinese origin.</description><identifier>ISSN: 0007-1161</identifier><identifier>EISSN: 1468-2079</identifier><identifier>DOI: 10.1136/bjophthalmol-2019-314679</identifier><identifier>PMID: 31519547</identifier><language>eng</language><publisher>England: BMJ Publishing Group LTD</publisher><subject>Adolescent ; Adult ; Aged ; Aged, 80 and over ; Bestrophins - genetics ; Bestrophins - metabolism ; Biomarkers - metabolism ; Child ; Child, Preschool ; China - epidemiology ; DNA - genetics ; DNA Mutational Analysis ; Eye Diseases, Hereditary - epidemiology ; Eye Diseases, Hereditary - genetics ; Eye Diseases, Hereditary - metabolism ; Families & family life ; Female ; Genes ; Genomics ; Humans ; Male ; Middle Aged ; Mutation ; Prevalence ; Proteins ; Retinal Diseases - epidemiology ; Retinal Diseases - genetics ; Retinal Diseases - metabolism ; Retrospective Studies ; Young Adult</subject><ispartof>British journal of ophthalmology, 2020-06, Vol.104 (6), p.846-851</ispartof><rights>Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ.</rights><rights>2020 Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b387t-25bb0a4af284f6f0afd72a56c1734ae6865cba2e647bf74553c29116393ffda43</citedby><cites>FETCH-LOGICAL-b387t-25bb0a4af284f6f0afd72a56c1734ae6865cba2e647bf74553c29116393ffda43</cites><orcidid>0000-0003-3892-5757</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/31519547$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Gao, Feng-Juan</creatorcontrib><creatorcontrib>Qi, Yu-He</creatorcontrib><creatorcontrib>Hu, Fang-Yuan</creatorcontrib><creatorcontrib>Wang, Dan-Dan</creatorcontrib><creatorcontrib>Xu, Ping</creatorcontrib><creatorcontrib>Guo, Jing-Li</creatorcontrib><creatorcontrib>Li, Jian-Kang</creatorcontrib><creatorcontrib>Zhang, Yong-Jin</creatorcontrib><creatorcontrib>Li, Wei</creatorcontrib><creatorcontrib>Chen, Fang</creatorcontrib><creatorcontrib>Xu, Ge-Zhi</creatorcontrib><creatorcontrib>Liu, Wei</creatorcontrib><creatorcontrib>Chang, Qing</creatorcontrib><creatorcontrib>Wu, Ji-Hong</creatorcontrib><title>Mutation spectrum of the bestrophin-1 gene in a large Chinese cohort with bestrophinopathy</title><title>British journal of ophthalmology</title><addtitle>Br J Ophthalmol</addtitle><description>BackgroundBestrophin-1 (BEST1) gene is associated with a wide range of ocular phenotypes, collectively termed as bestrophinopathy. The aim of the current study was to identify the mutation spectrum of BEST1 in a large cohort of Chinese patients with bestrophinopathy.MethodsPatients clinically suspected of bestrophinopathy were screened using multigene panel testing. All BEST1 variants were confirmed by Sanger sequencing, and validated in the families.FindingsA total of 92 patients (Best vitelliform macular dystrophy (BVMD)=77; autosomal recessive bestrophinopathy (ARB)=15) from 58 unrelated families of Chinese origin and their available family members (n=65) were recruited. Overall, 39 distinct disease-causing BEST1 variants were identified, including 13 novel variants, and two reported variants but novel for ARB. Of them, 14 were associated with ARB, 23 with BVMD and two (c.604C>T and c.898G>A) with both BVMD and ARB. Most mutations associated with BVMD were missense (97.78%), while ARB was associated with more complex mutations, including missense (88.46%), splicing effect (3.85%), and frameshifts (15.38%). BEST1 hotspots were c.898G>A and c.584C>T among BVMD and ARB patients, respectively. Hot regions were located in exons 8, 2 and 6 in BVMD patients, and in exons 5 and 7 in ARB patients. The overall penetrance of BEST1 in our cohort was 71.30%, no de novo mutations were identified.ConclusionThis is the largest study to date that provides major population-based data of the BEST1 mutation spectrum in China. Our results can serve as a well-founded reference for genetic counselling for patients with bestrophinopathy of Chinese origin.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Aged</subject><subject>Aged, 80 and over</subject><subject>Bestrophins - genetics</subject><subject>Bestrophins - metabolism</subject><subject>Biomarkers - metabolism</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>China - epidemiology</subject><subject>DNA - genetics</subject><subject>DNA Mutational Analysis</subject><subject>Eye Diseases, Hereditary - epidemiology</subject><subject>Eye Diseases, Hereditary - genetics</subject><subject>Eye Diseases, Hereditary - metabolism</subject><subject>Families & family life</subject><subject>Female</subject><subject>Genes</subject><subject>Genomics</subject><subject>Humans</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Mutation</subject><subject>Prevalence</subject><subject>Proteins</subject><subject>Retinal Diseases - epidemiology</subject><subject>Retinal Diseases - genetics</subject><subject>Retinal Diseases - metabolism</subject><subject>Retrospective Studies</subject><subject>Young Adult</subject><issn>0007-1161</issn><issn>1468-2079</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2020</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNqNkMtKxDAUhoMoznh5BQm4cVPNrUmzlMEbKG504yYkncR2aJuapIhvb8ZRGVy5OuTw_eecfABAjM4xpvzCrPzYpEZ3ve8KgrAsKGZcyB0wz7XKLSF3wRwhJAqMOZ6BgxhX-Uk4FvtgRnGJZcnEHLw8TEmn1g8wjrZOYeqhdzA1FhobU8hr2qHA8NUOFrYD1LDT4dXCRW7baGHtGx8SfG9TsxXwo07NxxHYc7qL9vi7HoLn66unxW1x_3hzt7i8LwytRCpIaQzSTDtSMccd0m4piC55jQVl2vKKl7XRxHImjBOsLGlNZP4UldS5pWb0EJxt5o7Bv035CNW3sbZdpwfrp6gIkUgiygjJ6OkfdOWnMOTrFGGUElLKL6raUHXwMQbr1BjaXocPhZFa-1fb_tXav9r4z9GT7wWT6e3yN_gjPAN0A5h-9f-xn8srlfs</recordid><startdate>202006</startdate><enddate>202006</enddate><creator>Gao, Feng-Juan</creator><creator>Qi, Yu-He</creator><creator>Hu, Fang-Yuan</creator><creator>Wang, Dan-Dan</creator><creator>Xu, Ping</creator><creator>Guo, Jing-Li</creator><creator>Li, Jian-Kang</creator><creator>Zhang, Yong-Jin</creator><creator>Li, Wei</creator><creator>Chen, Fang</creator><creator>Xu, Ge-Zhi</creator><creator>Liu, Wei</creator><creator>Chang, Qing</creator><creator>Wu, Ji-Hong</creator><general>BMJ Publishing Group LTD</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>BENPR</scope><scope>BTHHO</scope><scope>CCPQU</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0003-3892-5757</orcidid></search><sort><creationdate>202006</creationdate><title>Mutation spectrum of the bestrophin-1 gene in a large Chinese cohort with bestrophinopathy</title><author>Gao, Feng-Juan ; Qi, Yu-He ; Hu, Fang-Yuan ; Wang, Dan-Dan ; Xu, Ping ; Guo, Jing-Li ; Li, Jian-Kang ; Zhang, Yong-Jin ; Li, Wei ; Chen, Fang ; Xu, Ge-Zhi ; Liu, Wei ; Chang, Qing ; Wu, Ji-Hong</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b387t-25bb0a4af284f6f0afd72a56c1734ae6865cba2e647bf74553c29116393ffda43</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2020</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Aged</topic><topic>Aged, 80 and over</topic><topic>Bestrophins - genetics</topic><topic>Bestrophins - metabolism</topic><topic>Biomarkers - metabolism</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>China - epidemiology</topic><topic>DNA - genetics</topic><topic>DNA Mutational Analysis</topic><topic>Eye Diseases, Hereditary - epidemiology</topic><topic>Eye Diseases, Hereditary - genetics</topic><topic>Eye Diseases, Hereditary - metabolism</topic><topic>Families & family life</topic><topic>Female</topic><topic>Genes</topic><topic>Genomics</topic><topic>Humans</topic><topic>Male</topic><topic>Middle Aged</topic><topic>Mutation</topic><topic>Prevalence</topic><topic>Proteins</topic><topic>Retinal Diseases - epidemiology</topic><topic>Retinal Diseases - genetics</topic><topic>Retinal Diseases - metabolism</topic><topic>Retrospective Studies</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Gao, Feng-Juan</creatorcontrib><creatorcontrib>Qi, Yu-He</creatorcontrib><creatorcontrib>Hu, Fang-Yuan</creatorcontrib><creatorcontrib>Wang, Dan-Dan</creatorcontrib><creatorcontrib>Xu, Ping</creatorcontrib><creatorcontrib>Guo, Jing-Li</creatorcontrib><creatorcontrib>Li, Jian-Kang</creatorcontrib><creatorcontrib>Zhang, Yong-Jin</creatorcontrib><creatorcontrib>Li, Wei</creatorcontrib><creatorcontrib>Chen, Fang</creatorcontrib><creatorcontrib>Xu, Ge-Zhi</creatorcontrib><creatorcontrib>Liu, Wei</creatorcontrib><creatorcontrib>Chang, Qing</creatorcontrib><creatorcontrib>Wu, Ji-Hong</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central</collection><collection>BMJ Journals</collection><collection>ProQuest One Community College</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>MEDLINE - Academic</collection><jtitle>British journal of ophthalmology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Gao, Feng-Juan</au><au>Qi, Yu-He</au><au>Hu, Fang-Yuan</au><au>Wang, Dan-Dan</au><au>Xu, Ping</au><au>Guo, Jing-Li</au><au>Li, Jian-Kang</au><au>Zhang, Yong-Jin</au><au>Li, Wei</au><au>Chen, Fang</au><au>Xu, Ge-Zhi</au><au>Liu, Wei</au><au>Chang, Qing</au><au>Wu, Ji-Hong</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Mutation spectrum of the bestrophin-1 gene in a large Chinese cohort with bestrophinopathy</atitle><jtitle>British journal of ophthalmology</jtitle><addtitle>Br J Ophthalmol</addtitle><date>2020-06</date><risdate>2020</risdate><volume>104</volume><issue>6</issue><spage>846</spage><epage>851</epage><pages>846-851</pages><issn>0007-1161</issn><eissn>1468-2079</eissn><abstract>BackgroundBestrophin-1 (BEST1) gene is associated with a wide range of ocular phenotypes, collectively termed as bestrophinopathy. The aim of the current study was to identify the mutation spectrum of BEST1 in a large cohort of Chinese patients with bestrophinopathy.MethodsPatients clinically suspected of bestrophinopathy were screened using multigene panel testing. All BEST1 variants were confirmed by Sanger sequencing, and validated in the families.FindingsA total of 92 patients (Best vitelliform macular dystrophy (BVMD)=77; autosomal recessive bestrophinopathy (ARB)=15) from 58 unrelated families of Chinese origin and their available family members (n=65) were recruited. Overall, 39 distinct disease-causing BEST1 variants were identified, including 13 novel variants, and two reported variants but novel for ARB. Of them, 14 were associated with ARB, 23 with BVMD and two (c.604C>T and c.898G>A) with both BVMD and ARB. Most mutations associated with BVMD were missense (97.78%), while ARB was associated with more complex mutations, including missense (88.46%), splicing effect (3.85%), and frameshifts (15.38%). BEST1 hotspots were c.898G>A and c.584C>T among BVMD and ARB patients, respectively. Hot regions were located in exons 8, 2 and 6 in BVMD patients, and in exons 5 and 7 in ARB patients. The overall penetrance of BEST1 in our cohort was 71.30%, no de novo mutations were identified.ConclusionThis is the largest study to date that provides major population-based data of the BEST1 mutation spectrum in China. Our results can serve as a well-founded reference for genetic counselling for patients with bestrophinopathy of Chinese origin.</abstract><cop>England</cop><pub>BMJ Publishing Group LTD</pub><pmid>31519547</pmid><doi>10.1136/bjophthalmol-2019-314679</doi><tpages>6</tpages><orcidid>https://orcid.org/0000-0003-3892-5757</orcidid></addata></record> |
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subjects | Adolescent Adult Aged Aged, 80 and over Bestrophins - genetics Bestrophins - metabolism Biomarkers - metabolism Child Child, Preschool China - epidemiology DNA - genetics DNA Mutational Analysis Eye Diseases, Hereditary - epidemiology Eye Diseases, Hereditary - genetics Eye Diseases, Hereditary - metabolism Families & family life Female Genes Genomics Humans Male Middle Aged Mutation Prevalence Proteins Retinal Diseases - epidemiology Retinal Diseases - genetics Retinal Diseases - metabolism Retrospective Studies Young Adult |
title | Mutation spectrum of the bestrophin-1 gene in a large Chinese cohort with bestrophinopathy |
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