LOT1 (ZAC1/PLAGL1) as Member of an Imprinted Gene Network Does Not Harbor Silver-Russell Specific Variants
Silver-Russell syndrome (SRS) is a heterogeneous disease associated with intrauterine and postnatal growth retardation (IUGR/PNGR), asymmetry and craniofacial dysmorphisms. In 7-10% of patients with SRS, maternal uniparental disomy of chromosome 7 can be detected; more than 38% carry hypomethylation...
Gespeichert in:
| Veröffentlicht in: | Journal of Pediatric Endocrinology and Metabolism 2009-06, Vol.22 (6), p.555-560 |
|---|---|
| Hauptverfasser: | , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 560 |
|---|---|
| container_issue | 6 |
| container_start_page | 555 |
| container_title | Journal of Pediatric Endocrinology and Metabolism |
| container_volume | 22 |
| creator | Jäger, S. Schönherr, N. Spengler, S. Ranke, M.B. Wollmann, H.A. Binder, G. Eggermann, T. |
| description | Silver-Russell syndrome (SRS) is a heterogeneous disease associated with intrauterine and postnatal growth retardation (IUGR/PNGR), asymmetry and craniofacial dysmorphisms. In 7-10% of patients with SRS, maternal uniparental disomy of chromosome 7 can be detected; more than 38% carry hypomethylation of the imprinting region 1 in 11p15. These chromosomes harbor the imprinted genes IGF2, H19, LIT1 and MEST. In mice, interaction of these genes with the prenatally rexpressed Plagl1/Zac1 has been reported. The aim of this study was to identify mutations in the maternally imprinted LOT1(ZAC1/PLAGL1) gene in 6q24 in patients with SRS. We screened 30 patients with SRS and 14 patients with isolated IUGR/PNGR by SSCP and/or direct sequencing. Mutation analysis revealed nine genomic variants. Seven were novel but classified as apathogenic. Interestingly, two of these variants, g.10212T/A and g.10214C/A, showed strict association. However, our results do not indicate a relevant role of mutations in LOT1(ZAC1/PLAGL1) in the etiology of SRS. |
| doi_str_mv | 10.1515/JPEM.2009.22.6.555 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_67595198</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>67595198</sourcerecordid><originalsourceid>FETCH-LOGICAL-c339t-2c028910a2edfb2069d543f39d2d937ba149d1043b41eb18e7ab7539e7406ac53</originalsourceid><addsrcrecordid>eNpFkElP40AQRlsjRhAx_AEOqE8IDjZVvdjpYxSYADJ7BhCXVtsuS4bYznQ7s_z7cZRoONWh3lfLY-wQIUaN-uz6_uImFgAmFiJOYq31FzYSaDACoXGHjUBKFQGOX_fYQQjvAICAErXcZXtoEqMEyBF7z-7myE_eJlM8u88mswxPuQv8hpqcPO8q7lp-1Sx93fZU8hm1xG-p_935D37eUeC3Xc8vnc87z5_qxS_y0eMqBFos-NOSirqqC_7sfO3aPnxjXyu3CHSwrfvsx_eL-fQyyu5mV9NJFhVSmj4SBYixQXCCyioXkJhSK1lJU4rSyDR3qEyJoGSukHIcU-ryVEtDqYLEFVrus-PN3KXvfq4o9LapQzGc5FrqVsEmqTYazXgAxQYsfBeCp8oOfzbO_7UIdi3ZriXbtWQrhE3sIHkIHW2nr_KGys_IVukARBugDj39-d93_mPYLFNtH-bKXj-k53MltH2R_wDZ6YP9</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>67595198</pqid></control><display><type>article</type><title>LOT1 (ZAC1/PLAGL1) as Member of an Imprinted Gene Network Does Not Harbor Silver-Russell Specific Variants</title><source>MEDLINE</source><source>De Gruyter journals</source><creator>Jäger, S. ; Schönherr, N. ; Spengler, S. ; Ranke, M.B. ; Wollmann, H.A. ; Binder, G. ; Eggermann, T.</creator><creatorcontrib>Jäger, S. ; Schönherr, N. ; Spengler, S. ; Ranke, M.B. ; Wollmann, H.A. ; Binder, G. ; Eggermann, T.</creatorcontrib><description>Silver-Russell syndrome (SRS) is a heterogeneous disease associated with intrauterine and postnatal growth retardation (IUGR/PNGR), asymmetry and craniofacial dysmorphisms. In 7-10% of patients with SRS, maternal uniparental disomy of chromosome 7 can be detected; more than 38% carry hypomethylation of the imprinting region 1 in 11p15. These chromosomes harbor the imprinted genes IGF2, H19, LIT1 and MEST. In mice, interaction of these genes with the prenatally rexpressed Plagl1/Zac1 has been reported. The aim of this study was to identify mutations in the maternally imprinted LOT1(ZAC1/PLAGL1) gene in 6q24 in patients with SRS. We screened 30 patients with SRS and 14 patients with isolated IUGR/PNGR by SSCP and/or direct sequencing. Mutation analysis revealed nine genomic variants. Seven were novel but classified as apathogenic. Interestingly, two of these variants, g.10212T/A and g.10214C/A, showed strict association. However, our results do not indicate a relevant role of mutations in LOT1(ZAC1/PLAGL1) in the etiology of SRS.</description><identifier>ISSN: 0334-018X</identifier><identifier>EISSN: 2191-0251</identifier><identifier>DOI: 10.1515/JPEM.2009.22.6.555</identifier><identifier>PMID: 19694203</identifier><language>eng</language><publisher>Germany: De Gruyter</publisher><subject>Animals ; Base Sequence ; Cell Cycle Proteins - genetics ; Chromosomes, Human, Pair 11 ; Chromosomes, Human, Pair 7 ; Craniofacial Abnormalities - genetics ; DNA Methylation ; DNA Mutational Analysis ; Fetal Growth Retardation - genetics ; Genomic Imprinting ; Humans ; Infant, Newborn ; Mice ; Molecular Sequence Data ; Mutation ; Polymorphism, Single Nucleotide ; Polymorphism, Single-Stranded Conformational ; Syndrome ; Transcription Factors - genetics ; Tumor Suppressor Proteins - genetics ; Uniparental Disomy</subject><ispartof>Journal of Pediatric Endocrinology and Metabolism, 2009-06, Vol.22 (6), p.555-560</ispartof><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c339t-2c028910a2edfb2069d543f39d2d937ba149d1043b41eb18e7ab7539e7406ac53</citedby><cites>FETCH-LOGICAL-c339t-2c028910a2edfb2069d543f39d2d937ba149d1043b41eb18e7ab7539e7406ac53</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/19694203$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Jäger, S.</creatorcontrib><creatorcontrib>Schönherr, N.</creatorcontrib><creatorcontrib>Spengler, S.</creatorcontrib><creatorcontrib>Ranke, M.B.</creatorcontrib><creatorcontrib>Wollmann, H.A.</creatorcontrib><creatorcontrib>Binder, G.</creatorcontrib><creatorcontrib>Eggermann, T.</creatorcontrib><title>LOT1 (ZAC1/PLAGL1) as Member of an Imprinted Gene Network Does Not Harbor Silver-Russell Specific Variants</title><title>Journal of Pediatric Endocrinology and Metabolism</title><addtitle>J Pediatr Endocrinol Metab</addtitle><description>Silver-Russell syndrome (SRS) is a heterogeneous disease associated with intrauterine and postnatal growth retardation (IUGR/PNGR), asymmetry and craniofacial dysmorphisms. In 7-10% of patients with SRS, maternal uniparental disomy of chromosome 7 can be detected; more than 38% carry hypomethylation of the imprinting region 1 in 11p15. These chromosomes harbor the imprinted genes IGF2, H19, LIT1 and MEST. In mice, interaction of these genes with the prenatally rexpressed Plagl1/Zac1 has been reported. The aim of this study was to identify mutations in the maternally imprinted LOT1(ZAC1/PLAGL1) gene in 6q24 in patients with SRS. We screened 30 patients with SRS and 14 patients with isolated IUGR/PNGR by SSCP and/or direct sequencing. Mutation analysis revealed nine genomic variants. Seven were novel but classified as apathogenic. Interestingly, two of these variants, g.10212T/A and g.10214C/A, showed strict association. However, our results do not indicate a relevant role of mutations in LOT1(ZAC1/PLAGL1) in the etiology of SRS.</description><subject>Animals</subject><subject>Base Sequence</subject><subject>Cell Cycle Proteins - genetics</subject><subject>Chromosomes, Human, Pair 11</subject><subject>Chromosomes, Human, Pair 7</subject><subject>Craniofacial Abnormalities - genetics</subject><subject>DNA Methylation</subject><subject>DNA Mutational Analysis</subject><subject>Fetal Growth Retardation - genetics</subject><subject>Genomic Imprinting</subject><subject>Humans</subject><subject>Infant, Newborn</subject><subject>Mice</subject><subject>Molecular Sequence Data</subject><subject>Mutation</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Polymorphism, Single-Stranded Conformational</subject><subject>Syndrome</subject><subject>Transcription Factors - genetics</subject><subject>Tumor Suppressor Proteins - genetics</subject><subject>Uniparental Disomy</subject><issn>0334-018X</issn><issn>2191-0251</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2009</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpFkElP40AQRlsjRhAx_AEOqE8IDjZVvdjpYxSYADJ7BhCXVtsuS4bYznQ7s_z7cZRoONWh3lfLY-wQIUaN-uz6_uImFgAmFiJOYq31FzYSaDACoXGHjUBKFQGOX_fYQQjvAICAErXcZXtoEqMEyBF7z-7myE_eJlM8u88mswxPuQv8hpqcPO8q7lp-1Sx93fZU8hm1xG-p_935D37eUeC3Xc8vnc87z5_qxS_y0eMqBFos-NOSirqqC_7sfO3aPnxjXyu3CHSwrfvsx_eL-fQyyu5mV9NJFhVSmj4SBYixQXCCyioXkJhSK1lJU4rSyDR3qEyJoGSukHIcU-ryVEtDqYLEFVrus-PN3KXvfq4o9LapQzGc5FrqVsEmqTYazXgAxQYsfBeCp8oOfzbO_7UIdi3ZriXbtWQrhE3sIHkIHW2nr_KGys_IVukARBugDj39-d93_mPYLFNtH-bKXj-k53MltH2R_wDZ6YP9</recordid><startdate>20090601</startdate><enddate>20090601</enddate><creator>Jäger, S.</creator><creator>Schönherr, N.</creator><creator>Spengler, S.</creator><creator>Ranke, M.B.</creator><creator>Wollmann, H.A.</creator><creator>Binder, G.</creator><creator>Eggermann, T.</creator><general>De Gruyter</general><scope>BSCLL</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>20090601</creationdate><title>LOT1 (ZAC1/PLAGL1) as Member of an Imprinted Gene Network Does Not Harbor Silver-Russell Specific Variants</title><author>Jäger, S. ; Schönherr, N. ; Spengler, S. ; Ranke, M.B. ; Wollmann, H.A. ; Binder, G. ; Eggermann, T.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c339t-2c028910a2edfb2069d543f39d2d937ba149d1043b41eb18e7ab7539e7406ac53</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2009</creationdate><topic>Animals</topic><topic>Base Sequence</topic><topic>Cell Cycle Proteins - genetics</topic><topic>Chromosomes, Human, Pair 11</topic><topic>Chromosomes, Human, Pair 7</topic><topic>Craniofacial Abnormalities - genetics</topic><topic>DNA Methylation</topic><topic>DNA Mutational Analysis</topic><topic>Fetal Growth Retardation - genetics</topic><topic>Genomic Imprinting</topic><topic>Humans</topic><topic>Infant, Newborn</topic><topic>Mice</topic><topic>Molecular Sequence Data</topic><topic>Mutation</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Polymorphism, Single-Stranded Conformational</topic><topic>Syndrome</topic><topic>Transcription Factors - genetics</topic><topic>Tumor Suppressor Proteins - genetics</topic><topic>Uniparental Disomy</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Jäger, S.</creatorcontrib><creatorcontrib>Schönherr, N.</creatorcontrib><creatorcontrib>Spengler, S.</creatorcontrib><creatorcontrib>Ranke, M.B.</creatorcontrib><creatorcontrib>Wollmann, H.A.</creatorcontrib><creatorcontrib>Binder, G.</creatorcontrib><creatorcontrib>Eggermann, T.</creatorcontrib><collection>Istex</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>Journal of Pediatric Endocrinology and Metabolism</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Jäger, S.</au><au>Schönherr, N.</au><au>Spengler, S.</au><au>Ranke, M.B.</au><au>Wollmann, H.A.</au><au>Binder, G.</au><au>Eggermann, T.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>LOT1 (ZAC1/PLAGL1) as Member of an Imprinted Gene Network Does Not Harbor Silver-Russell Specific Variants</atitle><jtitle>Journal of Pediatric Endocrinology and Metabolism</jtitle><addtitle>J Pediatr Endocrinol Metab</addtitle><date>2009-06-01</date><risdate>2009</risdate><volume>22</volume><issue>6</issue><spage>555</spage><epage>560</epage><pages>555-560</pages><issn>0334-018X</issn><eissn>2191-0251</eissn><abstract>Silver-Russell syndrome (SRS) is a heterogeneous disease associated with intrauterine and postnatal growth retardation (IUGR/PNGR), asymmetry and craniofacial dysmorphisms. In 7-10% of patients with SRS, maternal uniparental disomy of chromosome 7 can be detected; more than 38% carry hypomethylation of the imprinting region 1 in 11p15. These chromosomes harbor the imprinted genes IGF2, H19, LIT1 and MEST. In mice, interaction of these genes with the prenatally rexpressed Plagl1/Zac1 has been reported. The aim of this study was to identify mutations in the maternally imprinted LOT1(ZAC1/PLAGL1) gene in 6q24 in patients with SRS. We screened 30 patients with SRS and 14 patients with isolated IUGR/PNGR by SSCP and/or direct sequencing. Mutation analysis revealed nine genomic variants. Seven were novel but classified as apathogenic. Interestingly, two of these variants, g.10212T/A and g.10214C/A, showed strict association. However, our results do not indicate a relevant role of mutations in LOT1(ZAC1/PLAGL1) in the etiology of SRS.</abstract><cop>Germany</cop><pub>De Gruyter</pub><pmid>19694203</pmid><doi>10.1515/JPEM.2009.22.6.555</doi><tpages>6</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0334-018X |
| ispartof | Journal of Pediatric Endocrinology and Metabolism, 2009-06, Vol.22 (6), p.555-560 |
| issn | 0334-018X 2191-0251 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_67595198 |
| source | MEDLINE; De Gruyter journals |
| subjects | Animals Base Sequence Cell Cycle Proteins - genetics Chromosomes, Human, Pair 11 Chromosomes, Human, Pair 7 Craniofacial Abnormalities - genetics DNA Methylation DNA Mutational Analysis Fetal Growth Retardation - genetics Genomic Imprinting Humans Infant, Newborn Mice Molecular Sequence Data Mutation Polymorphism, Single Nucleotide Polymorphism, Single-Stranded Conformational Syndrome Transcription Factors - genetics Tumor Suppressor Proteins - genetics Uniparental Disomy |
| title | LOT1 (ZAC1/PLAGL1) as Member of an Imprinted Gene Network Does Not Harbor Silver-Russell Specific Variants |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-31T11%3A13%3A43IST&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=LOT1%20(ZAC1/PLAGL1)%20as%20Member%20of%20an%20Imprinted%20Gene%20Network%20Does%20Not%20Harbor%20Silver-Russell%20Specific%20Variants&rft.jtitle=Journal%20of%20Pediatric%20Endocrinology%20and%20Metabolism&rft.au=J%C3%A4ger,%20S.&rft.date=2009-06-01&rft.volume=22&rft.issue=6&rft.spage=555&rft.epage=560&rft.pages=555-560&rft.issn=0334-018X&rft.eissn=2191-0251&rft_id=info:doi/10.1515/JPEM.2009.22.6.555&rft_dat=%3Cproquest_cross%3E67595198%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=67595198&rft_id=info:pmid/19694203&rfr_iscdi=true |