A novel mutation (967−970+2)delAAAGGT in the choroideremia gene found in a Japanese family and related clinical findings
Purpose To investigate the choroideremia ( CHM ) gene of one affected male and one obligate carrier in a Japanese family with choroideremia, and to characterize the related clinical features. Methods We examined one affected man and one carrier woman from a Japanese family. Genomic DNA was extracted...
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| Veröffentlicht in: | Japanese journal of ophthalmology 2008-07, Vol.52 (4), p.289-297 |
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| creator | Iino, Yutaka Fujimaki, Takuro Fujiki, Keiko Murakami, Akira |
| description | Purpose
To investigate the choroideremia (
CHM
) gene of one affected male and one obligate carrier in a Japanese family with choroideremia, and to characterize the related clinical features.
Methods
We examined one affected man and one carrier woman from a Japanese family. Genomic DNA was extracted from leukocytes of peripheral blood collected from the affected man and his daughter, who is an obligate carrier of choroideremia. Exons 1–15 of the
CHM g
ene were amplified by polymerase chain reaction (PCR) and directly sequenced. We performed ophthalmic examinations including best-corrected visual acuity, slit-lamp examination, fundus examination, electroretinography, and Goldmann perimetry.
Results
A novel (967−970+2)delAAAGGT mutation was detected in the
CHM
gene. The affected man was hemizygous and had night-blindness, chorioretinal atrophy spreading from the posterior pole to the mid-periphery, and bareness of the sclera. His daughter was a heterozygous carrier who had chorioretinal atrophy and mottled appearance of the retinal pigment epithelium.
Conclusion
A novel (967−970+2)delAAAGGT mutation existed in the
CHM
gene of a Japanese family with choroideremia. |
| doi_str_mv | 10.1007/s10384-008-0564-4 |
| format | Article |
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To investigate the choroideremia (
CHM
) gene of one affected male and one obligate carrier in a Japanese family with choroideremia, and to characterize the related clinical features.
Methods
We examined one affected man and one carrier woman from a Japanese family. Genomic DNA was extracted from leukocytes of peripheral blood collected from the affected man and his daughter, who is an obligate carrier of choroideremia. Exons 1–15 of the
CHM g
ene were amplified by polymerase chain reaction (PCR) and directly sequenced. We performed ophthalmic examinations including best-corrected visual acuity, slit-lamp examination, fundus examination, electroretinography, and Goldmann perimetry.
Results
A novel (967−970+2)delAAAGGT mutation was detected in the
CHM
gene. The affected man was hemizygous and had night-blindness, chorioretinal atrophy spreading from the posterior pole to the mid-periphery, and bareness of the sclera. His daughter was a heterozygous carrier who had chorioretinal atrophy and mottled appearance of the retinal pigment epithelium.
Conclusion
A novel (967−970+2)delAAAGGT mutation existed in the
CHM
gene of a Japanese family with choroideremia.</description><identifier>ISSN: 0021-5155</identifier><identifier>EISSN: 1613-2246</identifier><identifier>DOI: 10.1007/s10384-008-0564-4</identifier><identifier>PMID: 18773267</identifier><language>eng</language><publisher>Tokyo: Springer Japan</publisher><subject>Adaptor Proteins, Signal Transducing - genetics ; Adult ; Aged ; Base Sequence ; Choroideremia - genetics ; Clinical Investigation ; DNA Mutational Analysis ; DNA Primers - chemistry ; Electroretinography ; Exons - genetics ; Female ; Frameshift Mutation ; Heterozygote ; Humans ; Male ; Medicine ; Medicine & Public Health ; Night Blindness - genetics ; Ophthalmology ; Pedigree ; Polymerase Chain Reaction ; rab GTP-Binding Proteins - genetics ; Sequence Deletion ; Visual Acuity - physiology ; Visual Fields - physiology</subject><ispartof>Japanese journal of ophthalmology, 2008-07, Vol.52 (4), p.289-297</ispartof><rights>Japanese Ophthalmological Society (JOS) 2008</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c455t-fbb12362d71951107bee89e3a969dc407b16321178c8b4aac3de1524c0b459633</citedby><cites>FETCH-LOGICAL-c455t-fbb12362d71951107bee89e3a969dc407b16321178c8b4aac3de1524c0b459633</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s10384-008-0564-4$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s10384-008-0564-4$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,776,780,27901,27902,41464,42533,51294</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/18773267$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Iino, Yutaka</creatorcontrib><creatorcontrib>Fujimaki, Takuro</creatorcontrib><creatorcontrib>Fujiki, Keiko</creatorcontrib><creatorcontrib>Murakami, Akira</creatorcontrib><title>A novel mutation (967−970+2)delAAAGGT in the choroideremia gene found in a Japanese family and related clinical findings</title><title>Japanese journal of ophthalmology</title><addtitle>Jpn J Ophthalmol</addtitle><addtitle>Jpn J Ophthalmol</addtitle><description>Purpose
To investigate the choroideremia (
CHM
) gene of one affected male and one obligate carrier in a Japanese family with choroideremia, and to characterize the related clinical features.
Methods
We examined one affected man and one carrier woman from a Japanese family. Genomic DNA was extracted from leukocytes of peripheral blood collected from the affected man and his daughter, who is an obligate carrier of choroideremia. Exons 1–15 of the
CHM g
ene were amplified by polymerase chain reaction (PCR) and directly sequenced. We performed ophthalmic examinations including best-corrected visual acuity, slit-lamp examination, fundus examination, electroretinography, and Goldmann perimetry.
Results
A novel (967−970+2)delAAAGGT mutation was detected in the
CHM
gene. The affected man was hemizygous and had night-blindness, chorioretinal atrophy spreading from the posterior pole to the mid-periphery, and bareness of the sclera. His daughter was a heterozygous carrier who had chorioretinal atrophy and mottled appearance of the retinal pigment epithelium.
Conclusion
A novel (967−970+2)delAAAGGT mutation existed in the
CHM
gene of a Japanese family with choroideremia.</description><subject>Adaptor Proteins, Signal Transducing - genetics</subject><subject>Adult</subject><subject>Aged</subject><subject>Base Sequence</subject><subject>Choroideremia - genetics</subject><subject>Clinical Investigation</subject><subject>DNA Mutational Analysis</subject><subject>DNA Primers - chemistry</subject><subject>Electroretinography</subject><subject>Exons - genetics</subject><subject>Female</subject><subject>Frameshift Mutation</subject><subject>Heterozygote</subject><subject>Humans</subject><subject>Male</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Night Blindness - genetics</subject><subject>Ophthalmology</subject><subject>Pedigree</subject><subject>Polymerase Chain Reaction</subject><subject>rab GTP-Binding Proteins - genetics</subject><subject>Sequence Deletion</subject><subject>Visual Acuity - physiology</subject><subject>Visual Fields - physiology</subject><issn>0021-5155</issn><issn>1613-2246</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2008</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNqFkc2KFDEURoMoTjv6AG4kuBBFSm_-K8ti0FYZcDOuQ6rqVk-GqlSbVA2MT-DaR_RJTNMNA4K4Csl37peEQ8hzBu8YgHmfGYhaVgB1BUrLSj4gG6aZqDiX-iHZAHBWKabUGXmS8w0ASC74Y3LGamME12ZDfjQ0zrc40mld_BLmSF9bbX7__GUNvOVvehybptlur2iIdLlG2l3PaQ49JpyCpzuMSId5jf0h9_SL3_uIuZz5KYx31Jcg4egX7Gk3hhg6P9IhxD7EXX5KHg1-zPjstJ6Tbx8_XF18qi6_bj9fNJdVJ5VaqqFtGRea94ZZxRiYFrG2KLzVtu9k2TMtOGOm7upWet-JHpnisoNWKquFOCevjr37NH9fMS9uCrnDcSxPndfsOICwiuv_gsxqWYOFAr78C7yZ1xTLJxwXjCtt7KGNHaEuzTknHNw-hcmnO8fAHfS5oz5X9LmDPifLzItT8dpO2N9PnHwVgB-BXKK4w3R_879b_wDkvaMe</recordid><startdate>20080701</startdate><enddate>20080701</enddate><creator>Iino, Yutaka</creator><creator>Fujimaki, Takuro</creator><creator>Fujiki, Keiko</creator><creator>Murakami, Akira</creator><general>Springer Japan</general><general>Springer Nature B.V</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>7QL</scope><scope>7T7</scope><scope>7U9</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8FD</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>BENPR</scope><scope>C1K</scope><scope>CCPQU</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>H94</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>M7N</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>RC3</scope></search><sort><creationdate>20080701</creationdate><title>A novel mutation (967−970+2)delAAAGGT in the choroideremia gene found in a Japanese family and related clinical findings</title><author>Iino, Yutaka ; Fujimaki, Takuro ; Fujiki, Keiko ; Murakami, Akira</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c455t-fbb12362d71951107bee89e3a969dc407b16321178c8b4aac3de1524c0b459633</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2008</creationdate><topic>Adaptor Proteins, Signal Transducing - genetics</topic><topic>Adult</topic><topic>Aged</topic><topic>Base Sequence</topic><topic>Choroideremia - genetics</topic><topic>Clinical Investigation</topic><topic>DNA Mutational Analysis</topic><topic>DNA Primers - chemistry</topic><topic>Electroretinography</topic><topic>Exons - genetics</topic><topic>Female</topic><topic>Frameshift Mutation</topic><topic>Heterozygote</topic><topic>Humans</topic><topic>Male</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Night Blindness - genetics</topic><topic>Ophthalmology</topic><topic>Pedigree</topic><topic>Polymerase Chain Reaction</topic><topic>rab GTP-Binding Proteins - genetics</topic><topic>Sequence Deletion</topic><topic>Visual Acuity - physiology</topic><topic>Visual Fields - physiology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Iino, Yutaka</creatorcontrib><creatorcontrib>Fujimaki, Takuro</creatorcontrib><creatorcontrib>Fujiki, Keiko</creatorcontrib><creatorcontrib>Murakami, Akira</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>Bacteriology Abstracts (Microbiology B)</collection><collection>Industrial and Applied Microbiology Abstracts (Microbiology A)</collection><collection>Virology and AIDS Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Technology Research Database</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>Environmental Sciences and Pollution Management</collection><collection>ProQuest One Community College</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Algology Mycology and Protozoology Abstracts (Microbiology C)</collection><collection>Biotechnology and BioEngineering Abstracts</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>Genetics Abstracts</collection><jtitle>Japanese journal of ophthalmology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Iino, Yutaka</au><au>Fujimaki, Takuro</au><au>Fujiki, Keiko</au><au>Murakami, Akira</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A novel mutation (967−970+2)delAAAGGT in the choroideremia gene found in a Japanese family and related clinical findings</atitle><jtitle>Japanese journal of ophthalmology</jtitle><stitle>Jpn J Ophthalmol</stitle><addtitle>Jpn J Ophthalmol</addtitle><date>2008-07-01</date><risdate>2008</risdate><volume>52</volume><issue>4</issue><spage>289</spage><epage>297</epage><pages>289-297</pages><issn>0021-5155</issn><eissn>1613-2246</eissn><abstract>Purpose
To investigate the choroideremia (
CHM
) gene of one affected male and one obligate carrier in a Japanese family with choroideremia, and to characterize the related clinical features.
Methods
We examined one affected man and one carrier woman from a Japanese family. Genomic DNA was extracted from leukocytes of peripheral blood collected from the affected man and his daughter, who is an obligate carrier of choroideremia. Exons 1–15 of the
CHM g
ene were amplified by polymerase chain reaction (PCR) and directly sequenced. We performed ophthalmic examinations including best-corrected visual acuity, slit-lamp examination, fundus examination, electroretinography, and Goldmann perimetry.
Results
A novel (967−970+2)delAAAGGT mutation was detected in the
CHM
gene. The affected man was hemizygous and had night-blindness, chorioretinal atrophy spreading from the posterior pole to the mid-periphery, and bareness of the sclera. His daughter was a heterozygous carrier who had chorioretinal atrophy and mottled appearance of the retinal pigment epithelium.
Conclusion
A novel (967−970+2)delAAAGGT mutation existed in the
CHM
gene of a Japanese family with choroideremia.</abstract><cop>Tokyo</cop><pub>Springer Japan</pub><pmid>18773267</pmid><doi>10.1007/s10384-008-0564-4</doi><tpages>9</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0021-5155 |
| ispartof | Japanese journal of ophthalmology, 2008-07, Vol.52 (4), p.289-297 |
| issn | 0021-5155 1613-2246 |
| language | eng |
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| source | MEDLINE; SpringerLink Journals |
| subjects | Adaptor Proteins, Signal Transducing - genetics Adult Aged Base Sequence Choroideremia - genetics Clinical Investigation DNA Mutational Analysis DNA Primers - chemistry Electroretinography Exons - genetics Female Frameshift Mutation Heterozygote Humans Male Medicine Medicine & Public Health Night Blindness - genetics Ophthalmology Pedigree Polymerase Chain Reaction rab GTP-Binding Proteins - genetics Sequence Deletion Visual Acuity - physiology Visual Fields - physiology |
| title | A novel mutation (967−970+2)delAAAGGT in the choroideremia gene found in a Japanese family and related clinical findings |
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