Three Novel Deletions in the Alanine:Glyoxylate Aminotransferase Gene of Three Patients with Type 1 Hyperoxaluria
We describe three novel deletions in the human AGT gene in three patients with primary hyperoxaluria type 1, an autosomal recessive disease resulting from a deficiency of the liver peroxisomal enzyme, alanine glyoxylate aminotransferase (AGT; EC 2.6.1.44). A deletion of 4 nucleotides in the exon 6/i...
Gespeichert in:
| Veröffentlicht in: | Molecular genetics and metabolism 2001-11, Vol.74 (3), p.314-321 |
|---|---|
| Hauptverfasser: | , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 321 |
|---|---|
| container_issue | 3 |
| container_start_page | 314 |
| container_title | Molecular genetics and metabolism |
| container_volume | 74 |
| creator | Coulter-Mackie, Marion B. Rumsby, Gillian Applegarth, Derek A. Toone, Jennifer R. |
| description | We describe three novel deletions in the human AGT gene in three patients with primary hyperoxaluria type 1, an autosomal recessive disease resulting from a deficiency of the liver peroxisomal enzyme, alanine glyoxylate aminotransferase (AGT; EC 2.6.1.44). A deletion of 4 nucleotides in the exon 6/intron 6 splice junction (679-IVS6+2delAAgt) is expected to cause missplicing. It would also code for a K227E missense alteration in any mRNA successfully spliced. A 2-bp deletion in exon 11 (1125–1126del CG, cDNA) results in a frameshift. A deletion of at least 5–6 kb, EX1EX5del, spanned exons 1–5 and contiguous upstream sequence. All three deletions are heterozygous with previously documented missense mutations; the intron 6 deletion with F152I, the exon 11 deletion with G82E, and EX1EX5del with the common mistargeting mutation, G170R. |
| doi_str_mv | 10.1006/mgme.2001.3222 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_72289459</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><els_id>S1096719201932226</els_id><sourcerecordid>72289459</sourcerecordid><originalsourceid>FETCH-LOGICAL-c340t-7ef5b553bcdbe67e0483e8c15ea1118147377902688ebfd767de389324090ce13</originalsourceid><addsrcrecordid>eNp1kE1PAjEQhhujEUSvHk1P3sC2-9GuN4IKJkY94LnpdmelZncLbUH495aA8eTpnUyeeZN5ELqmZEQJye_azxZGjBA6ShhjJ6hPSZEPOSP56e9MC9ZDF95_RYpmRXqOepRyIkRO-mg1XzgA_Go30OAHaCAY23lsOhwWgMeN6kwH99NmZ7e7RoW4ak1ng1Odr8EpD3gKHWBb40PRuwoGuuDxtwkLPN8tAVM8i-HsVjVrZ9QlOqtV4-HqmAP08fQ4n8yGL2_T58n4ZaiTlIQhhzorsywpdVVCzoGkIgGhaQaKUipoyhPOC8JyIaCsK57zChJRJCwlBdFAkwG6PfQunV2twQfZGq-hiS-BXXvJGRNFmhURHB1A7az3Dmq5dKZVbicpkXvJci9Z7iXLveR4cHNsXpctVH_40WoExAGA-N_GgJNeRysaKuNAB1lZ81_3D_gRi90</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>72289459</pqid></control><display><type>article</type><title>Three Novel Deletions in the Alanine:Glyoxylate Aminotransferase Gene of Three Patients with Type 1 Hyperoxaluria</title><source>MEDLINE</source><source>Elsevier ScienceDirect Journals Complete</source><creator>Coulter-Mackie, Marion B. ; Rumsby, Gillian ; Applegarth, Derek A. ; Toone, Jennifer R.</creator><creatorcontrib>Coulter-Mackie, Marion B. ; Rumsby, Gillian ; Applegarth, Derek A. ; Toone, Jennifer R.</creatorcontrib><description>We describe three novel deletions in the human AGT gene in three patients with primary hyperoxaluria type 1, an autosomal recessive disease resulting from a deficiency of the liver peroxisomal enzyme, alanine glyoxylate aminotransferase (AGT; EC 2.6.1.44). A deletion of 4 nucleotides in the exon 6/intron 6 splice junction (679-IVS6+2delAAgt) is expected to cause missplicing. It would also code for a K227E missense alteration in any mRNA successfully spliced. A 2-bp deletion in exon 11 (1125–1126del CG, cDNA) results in a frameshift. A deletion of at least 5–6 kb, EX1EX5del, spanned exons 1–5 and contiguous upstream sequence. All three deletions are heterozygous with previously documented missense mutations; the intron 6 deletion with F152I, the exon 11 deletion with G82E, and EX1EX5del with the common mistargeting mutation, G170R.</description><identifier>ISSN: 1096-7192</identifier><identifier>EISSN: 1096-7206</identifier><identifier>DOI: 10.1006/mgme.2001.3222</identifier><identifier>PMID: 11708860</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>AGT ; AGXT ; alanine glyoxylate aminotransferase ; Amino Acid Sequence ; Base Sequence ; Child ; Child, Preschool ; DNA Mutational Analysis ; Family Health ; Female ; Humans ; Hyperoxaluria, Primary - enzymology ; Hyperoxaluria, Primary - genetics ; Infant ; Male ; Molecular Sequence Data ; Mutation ; peroxisomal targeting ; peroxisome ; PH1 ; Polymorphism, Genetic ; Sequence Deletion ; splice site ; Transaminases - drug effects ; Transaminases - genetics ; Transaminases - metabolism ; type 1 hyperoxaluria</subject><ispartof>Molecular genetics and metabolism, 2001-11, Vol.74 (3), p.314-321</ispartof><rights>2001 Academic Press</rights><rights>Copyright 2001 Academic Press.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c340t-7ef5b553bcdbe67e0483e8c15ea1118147377902688ebfd767de389324090ce13</citedby><cites>FETCH-LOGICAL-c340t-7ef5b553bcdbe67e0483e8c15ea1118147377902688ebfd767de389324090ce13</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1006/mgme.2001.3222$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,780,784,3548,27922,27923,45993</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/11708860$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Coulter-Mackie, Marion B.</creatorcontrib><creatorcontrib>Rumsby, Gillian</creatorcontrib><creatorcontrib>Applegarth, Derek A.</creatorcontrib><creatorcontrib>Toone, Jennifer R.</creatorcontrib><title>Three Novel Deletions in the Alanine:Glyoxylate Aminotransferase Gene of Three Patients with Type 1 Hyperoxaluria</title><title>Molecular genetics and metabolism</title><addtitle>Mol Genet Metab</addtitle><description>We describe three novel deletions in the human AGT gene in three patients with primary hyperoxaluria type 1, an autosomal recessive disease resulting from a deficiency of the liver peroxisomal enzyme, alanine glyoxylate aminotransferase (AGT; EC 2.6.1.44). A deletion of 4 nucleotides in the exon 6/intron 6 splice junction (679-IVS6+2delAAgt) is expected to cause missplicing. It would also code for a K227E missense alteration in any mRNA successfully spliced. A 2-bp deletion in exon 11 (1125–1126del CG, cDNA) results in a frameshift. A deletion of at least 5–6 kb, EX1EX5del, spanned exons 1–5 and contiguous upstream sequence. All three deletions are heterozygous with previously documented missense mutations; the intron 6 deletion with F152I, the exon 11 deletion with G82E, and EX1EX5del with the common mistargeting mutation, G170R.</description><subject>AGT</subject><subject>AGXT</subject><subject>alanine glyoxylate aminotransferase</subject><subject>Amino Acid Sequence</subject><subject>Base Sequence</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>DNA Mutational Analysis</subject><subject>Family Health</subject><subject>Female</subject><subject>Humans</subject><subject>Hyperoxaluria, Primary - enzymology</subject><subject>Hyperoxaluria, Primary - genetics</subject><subject>Infant</subject><subject>Male</subject><subject>Molecular Sequence Data</subject><subject>Mutation</subject><subject>peroxisomal targeting</subject><subject>peroxisome</subject><subject>PH1</subject><subject>Polymorphism, Genetic</subject><subject>Sequence Deletion</subject><subject>splice site</subject><subject>Transaminases - drug effects</subject><subject>Transaminases - genetics</subject><subject>Transaminases - metabolism</subject><subject>type 1 hyperoxaluria</subject><issn>1096-7192</issn><issn>1096-7206</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2001</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp1kE1PAjEQhhujEUSvHk1P3sC2-9GuN4IKJkY94LnpdmelZncLbUH495aA8eTpnUyeeZN5ELqmZEQJye_azxZGjBA6ShhjJ6hPSZEPOSP56e9MC9ZDF95_RYpmRXqOepRyIkRO-mg1XzgA_Go30OAHaCAY23lsOhwWgMeN6kwH99NmZ7e7RoW4ak1ng1Odr8EpD3gKHWBb40PRuwoGuuDxtwkLPN8tAVM8i-HsVjVrZ9QlOqtV4-HqmAP08fQ4n8yGL2_T58n4ZaiTlIQhhzorsywpdVVCzoGkIgGhaQaKUipoyhPOC8JyIaCsK57zChJRJCwlBdFAkwG6PfQunV2twQfZGq-hiS-BXXvJGRNFmhURHB1A7az3Dmq5dKZVbicpkXvJci9Z7iXLveR4cHNsXpctVH_40WoExAGA-N_GgJNeRysaKuNAB1lZ81_3D_gRi90</recordid><startdate>20011101</startdate><enddate>20011101</enddate><creator>Coulter-Mackie, Marion B.</creator><creator>Rumsby, Gillian</creator><creator>Applegarth, Derek A.</creator><creator>Toone, Jennifer R.</creator><general>Elsevier Inc</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>7X8</scope></search><sort><creationdate>20011101</creationdate><title>Three Novel Deletions in the Alanine:Glyoxylate Aminotransferase Gene of Three Patients with Type 1 Hyperoxaluria</title><author>Coulter-Mackie, Marion B. ; Rumsby, Gillian ; Applegarth, Derek A. ; Toone, Jennifer R.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c340t-7ef5b553bcdbe67e0483e8c15ea1118147377902688ebfd767de389324090ce13</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2001</creationdate><topic>AGT</topic><topic>AGXT</topic><topic>alanine glyoxylate aminotransferase</topic><topic>Amino Acid Sequence</topic><topic>Base Sequence</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>DNA Mutational Analysis</topic><topic>Family Health</topic><topic>Female</topic><topic>Humans</topic><topic>Hyperoxaluria, Primary - enzymology</topic><topic>Hyperoxaluria, Primary - genetics</topic><topic>Infant</topic><topic>Male</topic><topic>Molecular Sequence Data</topic><topic>Mutation</topic><topic>peroxisomal targeting</topic><topic>peroxisome</topic><topic>PH1</topic><topic>Polymorphism, Genetic</topic><topic>Sequence Deletion</topic><topic>splice site</topic><topic>Transaminases - drug effects</topic><topic>Transaminases - genetics</topic><topic>Transaminases - metabolism</topic><topic>type 1 hyperoxaluria</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Coulter-Mackie, Marion B.</creatorcontrib><creatorcontrib>Rumsby, Gillian</creatorcontrib><creatorcontrib>Applegarth, Derek A.</creatorcontrib><creatorcontrib>Toone, Jennifer R.</creatorcontrib><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>Molecular genetics and metabolism</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Coulter-Mackie, Marion B.</au><au>Rumsby, Gillian</au><au>Applegarth, Derek A.</au><au>Toone, Jennifer R.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Three Novel Deletions in the Alanine:Glyoxylate Aminotransferase Gene of Three Patients with Type 1 Hyperoxaluria</atitle><jtitle>Molecular genetics and metabolism</jtitle><addtitle>Mol Genet Metab</addtitle><date>2001-11-01</date><risdate>2001</risdate><volume>74</volume><issue>3</issue><spage>314</spage><epage>321</epage><pages>314-321</pages><issn>1096-7192</issn><eissn>1096-7206</eissn><abstract>We describe three novel deletions in the human AGT gene in three patients with primary hyperoxaluria type 1, an autosomal recessive disease resulting from a deficiency of the liver peroxisomal enzyme, alanine glyoxylate aminotransferase (AGT; EC 2.6.1.44). A deletion of 4 nucleotides in the exon 6/intron 6 splice junction (679-IVS6+2delAAgt) is expected to cause missplicing. It would also code for a K227E missense alteration in any mRNA successfully spliced. A 2-bp deletion in exon 11 (1125–1126del CG, cDNA) results in a frameshift. A deletion of at least 5–6 kb, EX1EX5del, spanned exons 1–5 and contiguous upstream sequence. All three deletions are heterozygous with previously documented missense mutations; the intron 6 deletion with F152I, the exon 11 deletion with G82E, and EX1EX5del with the common mistargeting mutation, G170R.</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>11708860</pmid><doi>10.1006/mgme.2001.3222</doi><tpages>8</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1096-7192 |
| ispartof | Molecular genetics and metabolism, 2001-11, Vol.74 (3), p.314-321 |
| issn | 1096-7192 1096-7206 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_72289459 |
| source | MEDLINE; Elsevier ScienceDirect Journals Complete |
| subjects | AGT AGXT alanine glyoxylate aminotransferase Amino Acid Sequence Base Sequence Child Child, Preschool DNA Mutational Analysis Family Health Female Humans Hyperoxaluria, Primary - enzymology Hyperoxaluria, Primary - genetics Infant Male Molecular Sequence Data Mutation peroxisomal targeting peroxisome PH1 Polymorphism, Genetic Sequence Deletion splice site Transaminases - drug effects Transaminases - genetics Transaminases - metabolism type 1 hyperoxaluria |
| title | Three Novel Deletions in the Alanine:Glyoxylate Aminotransferase Gene of Three Patients with Type 1 Hyperoxaluria |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-14T13%3A56%3A55IST&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=Three%20Novel%20Deletions%20in%20the%20Alanine:Glyoxylate%20Aminotransferase%20Gene%20of%20Three%20Patients%20with%20Type%201%20Hyperoxaluria&rft.jtitle=Molecular%20genetics%20and%20metabolism&rft.au=Coulter-Mackie,%20Marion%20B.&rft.date=2001-11-01&rft.volume=74&rft.issue=3&rft.spage=314&rft.epage=321&rft.pages=314-321&rft.issn=1096-7192&rft.eissn=1096-7206&rft_id=info:doi/10.1006/mgme.2001.3222&rft_dat=%3Cproquest_cross%3E72289459%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=72289459&rft_id=info:pmid/11708860&rft_els_id=S1096719201932226&rfr_iscdi=true |