Renal-coloboma syndrome: report of a novel PAX2 gene mutation
PURPOSE: To report a novel sporadic PAX2 gene mutation in a child with atypical bilateral optic nerve coloboma and congenital renal hypoplasia. DESIGN: Observational case report and experimental study. METHODS: Mutational analysis of the PAX2 gene in a family. RESULTS: A 9-year-old patient with a hi...
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| Veröffentlicht in: | American journal of ophthalmology 2001-12, Vol.132 (6), p.910-914 |
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| container_title | American journal of ophthalmology |
| container_volume | 132 |
| creator | Chung, Gary W. Edwards, Albert O. SchimentiI, Lisa A. Manligas, Glenda S. Zhang, Yao-hua Ritter, Robert |
| description | PURPOSE: To report a novel sporadic
PAX2 gene mutation in a child with atypical bilateral optic nerve coloboma and congenital renal hypoplasia.
DESIGN: Observational case report and experimental study.
METHODS: Mutational analysis of the
PAX2 gene in a family.
RESULTS: A 9-year-old patient with a history of renal transplantation for congenital renal hypoplasia was found to have bilateral optic nerve coloboma during ophthalmic examination for cytomegalovirus retinitis. A previously unreported mutation in exon 2, delT 602 leading to a prematurely truncated protein was identified in the child but in neither of her parents, demonstrating a de novo mutation or germline mosaicism.
CONCLUSIONS: The causal relationship between
PAX2 gene mutations and renal-coloboma syndrome is further supported by this novel mutation. Awareness of the systemic associations with optic nerve abnormalities and the ocular findings in syndromic renal diseases will facilitate the management of these highly variable disorders. |
| doi_str_mv | 10.1016/S0002-9394(01)01231-4 |
| format | Article |
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PAX2 gene mutation in a child with atypical bilateral optic nerve coloboma and congenital renal hypoplasia.
DESIGN: Observational case report and experimental study.
METHODS: Mutational analysis of the
PAX2 gene in a family.
RESULTS: A 9-year-old patient with a history of renal transplantation for congenital renal hypoplasia was found to have bilateral optic nerve coloboma during ophthalmic examination for cytomegalovirus retinitis. A previously unreported mutation in exon 2, delT 602 leading to a prematurely truncated protein was identified in the child but in neither of her parents, demonstrating a de novo mutation or germline mosaicism.
CONCLUSIONS: The causal relationship between
PAX2 gene mutations and renal-coloboma syndrome is further supported by this novel mutation. Awareness of the systemic associations with optic nerve abnormalities and the ocular findings in syndromic renal diseases will facilitate the management of these highly variable disorders.</description><identifier>ISSN: 0002-9394</identifier><identifier>EISSN: 1879-1891</identifier><identifier>DOI: 10.1016/S0002-9394(01)01231-4</identifier><identifier>PMID: 11730657</identifier><identifier>CODEN: AJOPAA</identifier><language>eng</language><publisher>New York, NY: Elsevier Inc</publisher><subject>Abnormalities, Multiple - genetics ; Biological and medical sciences ; Child ; Coloboma ; DNA Mutational Analysis ; DNA-Binding Proteins - genetics ; Exons - genetics ; Eye Abnormalities - genetics ; Female ; Gene Deletion ; Humans ; Kidney - abnormalities ; Malformations of the eye ; Medical sciences ; Mutation ; Ophthalmology ; Optic Nerve - abnormalities ; PAX2 Transcription Factor ; Pedigree ; Polymerase Chain Reaction ; Polymorphism, Single-Stranded Conformational ; Syndrome ; Transcription Factors - genetics</subject><ispartof>American journal of ophthalmology, 2001-12, Vol.132 (6), p.910-914</ispartof><rights>2001 Elsevier Science Inc.</rights><rights>2002 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c391t-22737b767124ed3fa06856296e39209634ab18b79338f3a82d0411424cbd62943</citedby><cites>FETCH-LOGICAL-c391t-22737b767124ed3fa06856296e39209634ab18b79338f3a82d0411424cbd62943</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/S0002-9394(01)01231-4$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,778,782,3539,27907,27908,45978</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=14137012$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/11730657$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Chung, Gary W.</creatorcontrib><creatorcontrib>Edwards, Albert O.</creatorcontrib><creatorcontrib>SchimentiI, Lisa A.</creatorcontrib><creatorcontrib>Manligas, Glenda S.</creatorcontrib><creatorcontrib>Zhang, Yao-hua</creatorcontrib><creatorcontrib>Ritter, Robert</creatorcontrib><title>Renal-coloboma syndrome: report of a novel PAX2 gene mutation</title><title>American journal of ophthalmology</title><addtitle>Am J Ophthalmol</addtitle><description>PURPOSE: To report a novel sporadic
PAX2 gene mutation in a child with atypical bilateral optic nerve coloboma and congenital renal hypoplasia.
DESIGN: Observational case report and experimental study.
METHODS: Mutational analysis of the
PAX2 gene in a family.
RESULTS: A 9-year-old patient with a history of renal transplantation for congenital renal hypoplasia was found to have bilateral optic nerve coloboma during ophthalmic examination for cytomegalovirus retinitis. A previously unreported mutation in exon 2, delT 602 leading to a prematurely truncated protein was identified in the child but in neither of her parents, demonstrating a de novo mutation or germline mosaicism.
CONCLUSIONS: The causal relationship between
PAX2 gene mutations and renal-coloboma syndrome is further supported by this novel mutation. Awareness of the systemic associations with optic nerve abnormalities and the ocular findings in syndromic renal diseases will facilitate the management of these highly variable disorders.</description><subject>Abnormalities, Multiple - genetics</subject><subject>Biological and medical sciences</subject><subject>Child</subject><subject>Coloboma</subject><subject>DNA Mutational Analysis</subject><subject>DNA-Binding Proteins - genetics</subject><subject>Exons - genetics</subject><subject>Eye Abnormalities - genetics</subject><subject>Female</subject><subject>Gene Deletion</subject><subject>Humans</subject><subject>Kidney - abnormalities</subject><subject>Malformations of the eye</subject><subject>Medical sciences</subject><subject>Mutation</subject><subject>Ophthalmology</subject><subject>Optic Nerve - abnormalities</subject><subject>PAX2 Transcription Factor</subject><subject>Pedigree</subject><subject>Polymerase Chain Reaction</subject><subject>Polymorphism, Single-Stranded Conformational</subject><subject>Syndrome</subject><subject>Transcription Factors - genetics</subject><issn>0002-9394</issn><issn>1879-1891</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2001</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkNtKxDAQhoMo7rr6CEpvFL2oZpJs0ggii3gCQfEA3oU0nUqlbdaku-Db2z2gl14NA9_8M_MRsg_0FCjIsxdKKUs11-KYwgkFxiEVG2QImdIpZBo2yfAXGZCdGD_7ViqhtskAQHEqx2pILp6xtXXqfO1z39gkfrdF8A2eJwGnPnSJLxObtH6OdfI0eWfJB7aYNLPOdpVvd8lWaeuIe-s6Im83169Xd-nD4-391eQhdVxDlzKmuMqVVMAEFry0VGZjybRErhnVkgubQ5YrzXlWcpuxggoAwYTLix4TfESOVrnT4L9mGDvTVNFhXdsW_Swa1X8vxlL24HgFuuBjDFiaaagaG74NULPwZpbezEKKoWCW3sxiwcF6wSxvsPibWovqgcM1YKOzdRls66r4xwngahE2IpcrDnsd8wqDia7C1mFRBXSdKXz1zyk_0yCGVQ</recordid><startdate>20011201</startdate><enddate>20011201</enddate><creator>Chung, Gary W.</creator><creator>Edwards, Albert O.</creator><creator>SchimentiI, Lisa A.</creator><creator>Manligas, Glenda S.</creator><creator>Zhang, Yao-hua</creator><creator>Ritter, Robert</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>20011201</creationdate><title>Renal-coloboma syndrome: report of a novel PAX2 gene mutation</title><author>Chung, Gary W. ; Edwards, Albert O. ; SchimentiI, Lisa A. ; Manligas, Glenda S. ; Zhang, Yao-hua ; Ritter, Robert</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c391t-22737b767124ed3fa06856296e39209634ab18b79338f3a82d0411424cbd62943</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2001</creationdate><topic>Abnormalities, Multiple - genetics</topic><topic>Biological and medical sciences</topic><topic>Child</topic><topic>Coloboma</topic><topic>DNA Mutational Analysis</topic><topic>DNA-Binding Proteins - genetics</topic><topic>Exons - genetics</topic><topic>Eye Abnormalities - genetics</topic><topic>Female</topic><topic>Gene Deletion</topic><topic>Humans</topic><topic>Kidney - abnormalities</topic><topic>Malformations of the eye</topic><topic>Medical sciences</topic><topic>Mutation</topic><topic>Ophthalmology</topic><topic>Optic Nerve - abnormalities</topic><topic>PAX2 Transcription Factor</topic><topic>Pedigree</topic><topic>Polymerase Chain Reaction</topic><topic>Polymorphism, Single-Stranded Conformational</topic><topic>Syndrome</topic><topic>Transcription Factors - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Chung, Gary W.</creatorcontrib><creatorcontrib>Edwards, Albert O.</creatorcontrib><creatorcontrib>SchimentiI, Lisa A.</creatorcontrib><creatorcontrib>Manligas, Glenda S.</creatorcontrib><creatorcontrib>Zhang, Yao-hua</creatorcontrib><creatorcontrib>Ritter, Robert</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>Chung, Gary W.</au><au>Edwards, Albert O.</au><au>SchimentiI, Lisa A.</au><au>Manligas, Glenda S.</au><au>Zhang, Yao-hua</au><au>Ritter, Robert</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Renal-coloboma syndrome: report of a novel PAX2 gene mutation</atitle><jtitle>American journal of ophthalmology</jtitle><addtitle>Am J Ophthalmol</addtitle><date>2001-12-01</date><risdate>2001</risdate><volume>132</volume><issue>6</issue><spage>910</spage><epage>914</epage><pages>910-914</pages><issn>0002-9394</issn><eissn>1879-1891</eissn><coden>AJOPAA</coden><abstract>PURPOSE: To report a novel sporadic
PAX2 gene mutation in a child with atypical bilateral optic nerve coloboma and congenital renal hypoplasia.
DESIGN: Observational case report and experimental study.
METHODS: Mutational analysis of the
PAX2 gene in a family.
RESULTS: A 9-year-old patient with a history of renal transplantation for congenital renal hypoplasia was found to have bilateral optic nerve coloboma during ophthalmic examination for cytomegalovirus retinitis. A previously unreported mutation in exon 2, delT 602 leading to a prematurely truncated protein was identified in the child but in neither of her parents, demonstrating a de novo mutation or germline mosaicism.
CONCLUSIONS: The causal relationship between
PAX2 gene mutations and renal-coloboma syndrome is further supported by this novel mutation. Awareness of the systemic associations with optic nerve abnormalities and the ocular findings in syndromic renal diseases will facilitate the management of these highly variable disorders.</abstract><cop>New York, NY</cop><pub>Elsevier Inc</pub><pmid>11730657</pmid><doi>10.1016/S0002-9394(01)01231-4</doi><tpages>5</tpages></addata></record> |
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| source | MEDLINE; Elsevier ScienceDirect Journals |
| subjects | Abnormalities, Multiple - genetics Biological and medical sciences Child Coloboma DNA Mutational Analysis DNA-Binding Proteins - genetics Exons - genetics Eye Abnormalities - genetics Female Gene Deletion Humans Kidney - abnormalities Malformations of the eye Medical sciences Mutation Ophthalmology Optic Nerve - abnormalities PAX2 Transcription Factor Pedigree Polymerase Chain Reaction Polymorphism, Single-Stranded Conformational Syndrome Transcription Factors - genetics |
| title | Renal-coloboma syndrome: report of a novel PAX2 gene mutation |
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