A Novel OPA1 Mutation Responsible for Autosomal Dominant Optic Atrophy with High Frequency Hearing Loss in a Chinese Family
Purpose To investigate the genetic findings and phenotypic characters of autosomal dominant optic atrophy (ADOA). Design Case report and experimental study. Methods Molecular genetic analysis and clinical examinations were performed in a Chinese family with ADOA. Mutations in OPA1 were detected by d...
Gespeichert in:
| Veröffentlicht in: | American journal of ophthalmology 2007, Vol.143 (1), p.186-188.e1 |
|---|---|
| Hauptverfasser: | , , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 188.e1 |
|---|---|
| container_issue | 1 |
| container_start_page | 186 |
| container_title | American journal of ophthalmology |
| container_volume | 143 |
| creator | Chen, Suqin, PhD Zhang, Yanling, MD, PhD Wang, Yiming, MD, PhD Li, Weili, MS Huang, Shuang, MS Chu, Xin, BS Wang, Lei Zhang, Mei, MD, PhD Liu, Zuguo, MD, PhD |
| description | Purpose To investigate the genetic findings and phenotypic characters of autosomal dominant optic atrophy (ADOA). Design Case report and experimental study. Methods Molecular genetic analysis and clinical examinations were performed in a Chinese family with ADOA. Mutations in OPA1 were detected by direct sequencing. Haplotypes were constructed and compared with the phenotypes in the family. Results Nine family members were diagnosed with ADOA and some of them were accompanied with hearing loss and/or high myopia. A novel heterozygous mutation, c.2848_2849delGA(p.Asp950CysfsX4), was detected in all ADOA patients. The mutation and the mutation bearing haplotype cosegregated with the nine affected members. One family member had high myopia without vision or hearing loss. This patient along with unaffected ones did not harbor the mutation. Conclusions A novel mutation, c.2848_2849delGA in OPA1 , was identified in a Chinese family with ADOA. This mutation is associated with hearing loss, but likely not high myopia. |
| doi_str_mv | 10.1016/j.ajo.2006.06.049 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_68390810</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><els_id>S0002939406007744</els_id><sourcerecordid>68390810</sourcerecordid><originalsourceid>FETCH-LOGICAL-c436t-eb7d5a9aa8136b0f63c7314ca683a1f431565001edd519fd1e3524a4bd12767a3</originalsourceid><addsrcrecordid>eNp9kl2r1DAQhosonvXoD_BGcqN3XTNt2rQIQlldV1hd8eM6pOn0bNY26UnaI8U_b-ouHPBCGBgCz0xeHiaKngNdA4X89WktT3adUJqvl2Llg2gFBS9jKEp4GK0opUlcpiW7ip54fwrPnDP-OLoCDkVBOV1Fvyvy2d5hRw5fKiCfplGO2hryFf1gjdd1h6S1jlTTaL3tZUfe2V4baUZyGEatSDU6Oxxn8kuPR7LTN0eydXg7oVEz2aF02tyQvfWeaEMk2Ry1QY9kK3vdzU-jR63sPD679Ovox_b9980u3h8-fNxU-1ixNB9jrHmTyVLKAtK8pm2eKp4CUzIvUgktSyHLM0oBmyaDsm0A0yxhktUNJDznMr2OXp33Ds6GaH4UvfYKu04atJMXYU9JC6ABhDOoXIjssBWD0710swAqFuPiJIJxsRgXS7EyzLy4LJ_qHpv7iYviALy8ANIr2bVOGqX9PVcUSVb85d6cOQwq7jQ64ZUOHrHRDtUoGqv_G-PtP9Oq00aHD3_ijP5kJ2eCYwHCJ4KKb8tpLJdBc0o5Zyz9AwuNspA</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>68390810</pqid></control><display><type>article</type><title>A Novel OPA1 Mutation Responsible for Autosomal Dominant Optic Atrophy with High Frequency Hearing Loss in a Chinese Family</title><source>MEDLINE</source><source>Access via ScienceDirect (Elsevier)</source><creator>Chen, Suqin, PhD ; Zhang, Yanling, MD, PhD ; Wang, Yiming, MD, PhD ; Li, Weili, MS ; Huang, Shuang, MS ; Chu, Xin, BS ; Wang, Lei ; Zhang, Mei, MD, PhD ; Liu, Zuguo, MD, PhD</creator><creatorcontrib>Chen, Suqin, PhD ; Zhang, Yanling, MD, PhD ; Wang, Yiming, MD, PhD ; Li, Weili, MS ; Huang, Shuang, MS ; Chu, Xin, BS ; Wang, Lei ; Zhang, Mei, MD, PhD ; Liu, Zuguo, MD, PhD</creatorcontrib><description>Purpose To investigate the genetic findings and phenotypic characters of autosomal dominant optic atrophy (ADOA). Design Case report and experimental study. Methods Molecular genetic analysis and clinical examinations were performed in a Chinese family with ADOA. Mutations in OPA1 were detected by direct sequencing. Haplotypes were constructed and compared with the phenotypes in the family. Results Nine family members were diagnosed with ADOA and some of them were accompanied with hearing loss and/or high myopia. A novel heterozygous mutation, c.2848_2849delGA(p.Asp950CysfsX4), was detected in all ADOA patients. The mutation and the mutation bearing haplotype cosegregated with the nine affected members. One family member had high myopia without vision or hearing loss. This patient along with unaffected ones did not harbor the mutation. Conclusions A novel mutation, c.2848_2849delGA in OPA1 , was identified in a Chinese family with ADOA. This mutation is associated with hearing loss, but likely not high myopia.</description><identifier>ISSN: 0002-9394</identifier><identifier>EISSN: 1879-1891</identifier><identifier>DOI: 10.1016/j.ajo.2006.06.049</identifier><identifier>PMID: 17188070</identifier><identifier>CODEN: AJOPAA</identifier><language>eng</language><publisher>New York, NY: Elsevier Inc</publisher><subject>Adolescent ; Adult ; Asian Continental Ancestry Group - genetics ; Biological and medical sciences ; Child ; Diseases of visual field, optic nerve, optic chiasma and optic tracts ; DNA Mutational Analysis ; Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology ; Female ; GTP Phosphohydrolases - genetics ; Haplotypes ; Hearing Loss - ethnology ; Hearing Loss - genetics ; Humans ; Male ; Medical sciences ; Middle Aged ; Miscellaneous ; Mutation ; Myopia - genetics ; Non tumoral diseases ; Ophthalmology ; Optic Atrophy, Autosomal Dominant - ethnology ; Optic Atrophy, Autosomal Dominant - genetics ; Otorhinolaryngology. Stomatology ; Pedigree ; Phenotype ; Polymerase Chain Reaction</subject><ispartof>American journal of ophthalmology, 2007, Vol.143 (1), p.186-188.e1</ispartof><rights>Elsevier Inc.</rights><rights>2007 Elsevier Inc.</rights><rights>2007 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c436t-eb7d5a9aa8136b0f63c7314ca683a1f431565001edd519fd1e3524a4bd12767a3</citedby><cites>FETCH-LOGICAL-c436t-eb7d5a9aa8136b0f63c7314ca683a1f431565001edd519fd1e3524a4bd12767a3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/j.ajo.2006.06.049$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,780,784,3550,4024,27923,27924,27925,45995</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=18825870$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/17188070$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Chen, Suqin, PhD</creatorcontrib><creatorcontrib>Zhang, Yanling, MD, PhD</creatorcontrib><creatorcontrib>Wang, Yiming, MD, PhD</creatorcontrib><creatorcontrib>Li, Weili, MS</creatorcontrib><creatorcontrib>Huang, Shuang, MS</creatorcontrib><creatorcontrib>Chu, Xin, BS</creatorcontrib><creatorcontrib>Wang, Lei</creatorcontrib><creatorcontrib>Zhang, Mei, MD, PhD</creatorcontrib><creatorcontrib>Liu, Zuguo, MD, PhD</creatorcontrib><title>A Novel OPA1 Mutation Responsible for Autosomal Dominant Optic Atrophy with High Frequency Hearing Loss in a Chinese Family</title><title>American journal of ophthalmology</title><addtitle>Am J Ophthalmol</addtitle><description>Purpose To investigate the genetic findings and phenotypic characters of autosomal dominant optic atrophy (ADOA). Design Case report and experimental study. Methods Molecular genetic analysis and clinical examinations were performed in a Chinese family with ADOA. Mutations in OPA1 were detected by direct sequencing. Haplotypes were constructed and compared with the phenotypes in the family. Results Nine family members were diagnosed with ADOA and some of them were accompanied with hearing loss and/or high myopia. A novel heterozygous mutation, c.2848_2849delGA(p.Asp950CysfsX4), was detected in all ADOA patients. The mutation and the mutation bearing haplotype cosegregated with the nine affected members. One family member had high myopia without vision or hearing loss. This patient along with unaffected ones did not harbor the mutation. Conclusions A novel mutation, c.2848_2849delGA in OPA1 , was identified in a Chinese family with ADOA. This mutation is associated with hearing loss, but likely not high myopia.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Asian Continental Ancestry Group - genetics</subject><subject>Biological and medical sciences</subject><subject>Child</subject><subject>Diseases of visual field, optic nerve, optic chiasma and optic tracts</subject><subject>DNA Mutational Analysis</subject><subject>Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology</subject><subject>Female</subject><subject>GTP Phosphohydrolases - genetics</subject><subject>Haplotypes</subject><subject>Hearing Loss - ethnology</subject><subject>Hearing Loss - genetics</subject><subject>Humans</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Miscellaneous</subject><subject>Mutation</subject><subject>Myopia - genetics</subject><subject>Non tumoral diseases</subject><subject>Ophthalmology</subject><subject>Optic Atrophy, Autosomal Dominant - ethnology</subject><subject>Optic Atrophy, Autosomal Dominant - genetics</subject><subject>Otorhinolaryngology. Stomatology</subject><subject>Pedigree</subject><subject>Phenotype</subject><subject>Polymerase Chain Reaction</subject><issn>0002-9394</issn><issn>1879-1891</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2007</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kl2r1DAQhosonvXoD_BGcqN3XTNt2rQIQlldV1hd8eM6pOn0bNY26UnaI8U_b-ouHPBCGBgCz0xeHiaKngNdA4X89WktT3adUJqvl2Llg2gFBS9jKEp4GK0opUlcpiW7ip54fwrPnDP-OLoCDkVBOV1Fvyvy2d5hRw5fKiCfplGO2hryFf1gjdd1h6S1jlTTaL3tZUfe2V4baUZyGEatSDU6Oxxn8kuPR7LTN0eydXg7oVEz2aF02tyQvfWeaEMk2Ry1QY9kK3vdzU-jR63sPD679Ovox_b9980u3h8-fNxU-1ixNB9jrHmTyVLKAtK8pm2eKp4CUzIvUgktSyHLM0oBmyaDsm0A0yxhktUNJDznMr2OXp33Ds6GaH4UvfYKu04atJMXYU9JC6ABhDOoXIjssBWD0710swAqFuPiJIJxsRgXS7EyzLy4LJ_qHpv7iYviALy8ANIr2bVOGqX9PVcUSVb85d6cOQwq7jQ64ZUOHrHRDtUoGqv_G-PtP9Oq00aHD3_ijP5kJ2eCYwHCJ4KKb8tpLJdBc0o5Zyz9AwuNspA</recordid><startdate>2007</startdate><enddate>2007</enddate><creator>Chen, Suqin, PhD</creator><creator>Zhang, Yanling, MD, PhD</creator><creator>Wang, Yiming, MD, PhD</creator><creator>Li, Weili, MS</creator><creator>Huang, Shuang, MS</creator><creator>Chu, Xin, BS</creator><creator>Wang, Lei</creator><creator>Zhang, Mei, MD, PhD</creator><creator>Liu, Zuguo, MD, PhD</creator><general>Elsevier Inc</general><general>Elsevier</general><scope>IQODW</scope><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>7X8</scope></search><sort><creationdate>2007</creationdate><title>A Novel OPA1 Mutation Responsible for Autosomal Dominant Optic Atrophy with High Frequency Hearing Loss in a Chinese Family</title><author>Chen, Suqin, PhD ; Zhang, Yanling, MD, PhD ; Wang, Yiming, MD, PhD ; Li, Weili, MS ; Huang, Shuang, MS ; Chu, Xin, BS ; Wang, Lei ; Zhang, Mei, MD, PhD ; Liu, Zuguo, MD, PhD</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c436t-eb7d5a9aa8136b0f63c7314ca683a1f431565001edd519fd1e3524a4bd12767a3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2007</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Asian Continental Ancestry Group - genetics</topic><topic>Biological and medical sciences</topic><topic>Child</topic><topic>Diseases of visual field, optic nerve, optic chiasma and optic tracts</topic><topic>DNA Mutational Analysis</topic><topic>Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology</topic><topic>Female</topic><topic>GTP Phosphohydrolases - genetics</topic><topic>Haplotypes</topic><topic>Hearing Loss - ethnology</topic><topic>Hearing Loss - genetics</topic><topic>Humans</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Miscellaneous</topic><topic>Mutation</topic><topic>Myopia - genetics</topic><topic>Non tumoral diseases</topic><topic>Ophthalmology</topic><topic>Optic Atrophy, Autosomal Dominant - ethnology</topic><topic>Optic Atrophy, Autosomal Dominant - genetics</topic><topic>Otorhinolaryngology. Stomatology</topic><topic>Pedigree</topic><topic>Phenotype</topic><topic>Polymerase Chain Reaction</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Chen, Suqin, PhD</creatorcontrib><creatorcontrib>Zhang, Yanling, MD, PhD</creatorcontrib><creatorcontrib>Wang, Yiming, MD, PhD</creatorcontrib><creatorcontrib>Li, Weili, MS</creatorcontrib><creatorcontrib>Huang, Shuang, MS</creatorcontrib><creatorcontrib>Chu, Xin, BS</creatorcontrib><creatorcontrib>Wang, Lei</creatorcontrib><creatorcontrib>Zhang, Mei, MD, PhD</creatorcontrib><creatorcontrib>Liu, Zuguo, MD, PhD</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>American journal of ophthalmology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Chen, Suqin, PhD</au><au>Zhang, Yanling, MD, PhD</au><au>Wang, Yiming, MD, PhD</au><au>Li, Weili, MS</au><au>Huang, Shuang, MS</au><au>Chu, Xin, BS</au><au>Wang, Lei</au><au>Zhang, Mei, MD, PhD</au><au>Liu, Zuguo, MD, PhD</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A Novel OPA1 Mutation Responsible for Autosomal Dominant Optic Atrophy with High Frequency Hearing Loss in a Chinese Family</atitle><jtitle>American journal of ophthalmology</jtitle><addtitle>Am J Ophthalmol</addtitle><date>2007</date><risdate>2007</risdate><volume>143</volume><issue>1</issue><spage>186</spage><epage>188.e1</epage><pages>186-188.e1</pages><issn>0002-9394</issn><eissn>1879-1891</eissn><coden>AJOPAA</coden><abstract>Purpose To investigate the genetic findings and phenotypic characters of autosomal dominant optic atrophy (ADOA). Design Case report and experimental study. Methods Molecular genetic analysis and clinical examinations were performed in a Chinese family with ADOA. Mutations in OPA1 were detected by direct sequencing. Haplotypes were constructed and compared with the phenotypes in the family. Results Nine family members were diagnosed with ADOA and some of them were accompanied with hearing loss and/or high myopia. A novel heterozygous mutation, c.2848_2849delGA(p.Asp950CysfsX4), was detected in all ADOA patients. The mutation and the mutation bearing haplotype cosegregated with the nine affected members. One family member had high myopia without vision or hearing loss. This patient along with unaffected ones did not harbor the mutation. Conclusions A novel mutation, c.2848_2849delGA in OPA1 , was identified in a Chinese family with ADOA. This mutation is associated with hearing loss, but likely not high myopia.</abstract><cop>New York, NY</cop><pub>Elsevier Inc</pub><pmid>17188070</pmid><doi>10.1016/j.ajo.2006.06.049</doi><tpages>3</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0002-9394 |
| ispartof | American journal of ophthalmology, 2007, Vol.143 (1), p.186-188.e1 |
| issn | 0002-9394 1879-1891 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_68390810 |
| source | MEDLINE; Access via ScienceDirect (Elsevier) |
| subjects | Adolescent Adult Asian Continental Ancestry Group - genetics Biological and medical sciences Child Diseases of visual field, optic nerve, optic chiasma and optic tracts DNA Mutational Analysis Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology Female GTP Phosphohydrolases - genetics Haplotypes Hearing Loss - ethnology Hearing Loss - genetics Humans Male Medical sciences Middle Aged Miscellaneous Mutation Myopia - genetics Non tumoral diseases Ophthalmology Optic Atrophy, Autosomal Dominant - ethnology Optic Atrophy, Autosomal Dominant - genetics Otorhinolaryngology. Stomatology Pedigree Phenotype Polymerase Chain Reaction |
| title | A Novel OPA1 Mutation Responsible for Autosomal Dominant Optic Atrophy with High Frequency Hearing Loss in a Chinese Family |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-26T17%3A47%3A13IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=A%20Novel%20OPA1%20Mutation%20Responsible%20for%20Autosomal%20Dominant%20Optic%20Atrophy%20with%20High%20Frequency%20Hearing%20Loss%20in%20a%20Chinese%20Family&rft.jtitle=American%20journal%20of%20ophthalmology&rft.au=Chen,%20Suqin,%20PhD&rft.date=2007&rft.volume=143&rft.issue=1&rft.spage=186&rft.epage=188.e1&rft.pages=186-188.e1&rft.issn=0002-9394&rft.eissn=1879-1891&rft.coden=AJOPAA&rft_id=info:doi/10.1016/j.ajo.2006.06.049&rft_dat=%3Cproquest_cross%3E68390810%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=68390810&rft_id=info:pmid/17188070&rft_els_id=S0002939406007744&rfr_iscdi=true |