Extending the critical regions for mutations in the non‐coding gene RNU4ATAC in another patient with Roifman Syndrome
Key Clinical Message Compound heterozygosity of a previously described pathogenic variant and a second novel nucleotide substitution (NR_023343.1:n.116A>C) affecting a highly conserved nucleotide in the noncoding RNU4ATAC gene could be identified in a patient with overlapping features of Roifman...
Gespeichert in:
| Veröffentlicht in: | Clinical case reports 2018-11, Vol.6 (11), p.2224-2228 |
|---|---|
| Hauptverfasser: | , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 2228 |
|---|---|
| container_issue | 11 |
| container_start_page | 2224 |
| container_title | Clinical case reports |
| container_volume | 6 |
| creator | Hallermayr, Ariane Graf, Janine Koehler, Udo Laner, Andreas Schönfeld, Brigitte Benet‐Pagès, Anna Holinski‐Feder, Elke |
| description | Key Clinical Message
Compound heterozygosity of a previously described pathogenic variant and a second novel nucleotide substitution (NR_023343.1:n.116A>C) affecting a highly conserved nucleotide in the noncoding RNU4ATAC gene could be identified in a patient with overlapping features of Roifman Syndrome. These data extend the spectrum of pathogenic variants in RNU4ATAC.
Compound heterozygosity of a previously described pathogenic variant and a second novel nucleotide substitution (NR_023343.1:n.116A>C) affecting a highly conserved nucleotide in the noncoding RNU4ATAC gene could be identified in a patient with overlapping features of Roifman Syndrome. These data extend the spectrum of pathogenic variants in RNU4ATAC. |
| doi_str_mv | 10.1002/ccr3.1830 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6230649</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2131739224</sourcerecordid><originalsourceid>FETCH-LOGICAL-c4100-19164241627e1b126e4e65fd09b02b9127400da4ac8f8d1d5e9fba80a0e9764d3</originalsourceid><addsrcrecordid>eNp1kcFO4zAURa3RoCkqLOYHkCVWs2h5dpyk3iBVEQwjoUHq0LXlOC-tUWMXJ6V0N5_AN_IluC0gWLCyLZ93fK1LyE8GQwbAz4wJyZCNEvhGDjmkMAAJ4vuHfY8ct-0dADDIecrgB-klINJU8uyQrC8eO3SVdTPazZGaYDtr9IIGnFnvWlr7QJtVp7vdybod5bx7_v9k_G5shg7p5O9UjG_HxZbQzkco0GUcQtfRte3mdOJt3WhH_21cFXyDR-Sg1osWj1_XPpleXtwWV4Prm99_ivH1wIj4uwGTLBNcsIznyErGMxSYpXUFsgReSsZzAVBpoc2oHlWsSlHWpR6BBpR5JqqkT8733uWqbLAyMVDQC7UMttFho7y26vONs3M18w8q4wlkQkbB6asg-PsVtp2686vgYmbFWcLyRHIuIvVrT5ng2zZg_f4CA7WtSW1rUtuaInvyMdI7-VZKBM72wNoucPO1SRXFJNkpXwC65p2u</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2131739224</pqid></control><display><type>article</type><title>Extending the critical regions for mutations in the non‐coding gene RNU4ATAC in another patient with Roifman Syndrome</title><source>Wiley Online Library Open Access</source><source>DOAJ Directory of Open Access Journals</source><source>Wiley Online Library Journals Frontfile Complete</source><source>Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals</source><source>PubMed Central</source><creator>Hallermayr, Ariane ; Graf, Janine ; Koehler, Udo ; Laner, Andreas ; Schönfeld, Brigitte ; Benet‐Pagès, Anna ; Holinski‐Feder, Elke</creator><creatorcontrib>Hallermayr, Ariane ; Graf, Janine ; Koehler, Udo ; Laner, Andreas ; Schönfeld, Brigitte ; Benet‐Pagès, Anna ; Holinski‐Feder, Elke</creatorcontrib><description>Key Clinical Message
Compound heterozygosity of a previously described pathogenic variant and a second novel nucleotide substitution (NR_023343.1:n.116A>C) affecting a highly conserved nucleotide in the noncoding RNU4ATAC gene could be identified in a patient with overlapping features of Roifman Syndrome. These data extend the spectrum of pathogenic variants in RNU4ATAC.
Compound heterozygosity of a previously described pathogenic variant and a second novel nucleotide substitution (NR_023343.1:n.116A>C) affecting a highly conserved nucleotide in the noncoding RNU4ATAC gene could be identified in a patient with overlapping features of Roifman Syndrome. These data extend the spectrum of pathogenic variants in RNU4ATAC.</description><identifier>ISSN: 2050-0904</identifier><identifier>EISSN: 2050-0904</identifier><identifier>DOI: 10.1002/ccr3.1830</identifier><identifier>PMID: 30455926</identifier><language>eng</language><publisher>England: John Wiley & Sons, Inc</publisher><subject>Case Report ; Case Reports ; clinical exome sequencing ; minor intron splicing ; NR_023343.1:n.116A>C ; NR_023343.1:n.13C>T ; RNU4ATAC ; Roifman Syndrome ; snRNA U4atac</subject><ispartof>Clinical case reports, 2018-11, Vol.6 (11), p.2224-2228</ispartof><rights>2018 The Authors. published by John Wiley & Sons Ltd.</rights><rights>2018. This work is published under http://creativecommons.org/licenses/by-nc/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4100-19164241627e1b126e4e65fd09b02b9127400da4ac8f8d1d5e9fba80a0e9764d3</citedby><cites>FETCH-LOGICAL-c4100-19164241627e1b126e4e65fd09b02b9127400da4ac8f8d1d5e9fba80a0e9764d3</cites><orcidid>0000-0002-6503-1874</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6230649/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6230649/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,860,881,1411,11541,27901,27902,45550,45551,46027,46451,53766,53768</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/30455926$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Hallermayr, Ariane</creatorcontrib><creatorcontrib>Graf, Janine</creatorcontrib><creatorcontrib>Koehler, Udo</creatorcontrib><creatorcontrib>Laner, Andreas</creatorcontrib><creatorcontrib>Schönfeld, Brigitte</creatorcontrib><creatorcontrib>Benet‐Pagès, Anna</creatorcontrib><creatorcontrib>Holinski‐Feder, Elke</creatorcontrib><title>Extending the critical regions for mutations in the non‐coding gene RNU4ATAC in another patient with Roifman Syndrome</title><title>Clinical case reports</title><addtitle>Clin Case Rep</addtitle><description>Key Clinical Message
Compound heterozygosity of a previously described pathogenic variant and a second novel nucleotide substitution (NR_023343.1:n.116A>C) affecting a highly conserved nucleotide in the noncoding RNU4ATAC gene could be identified in a patient with overlapping features of Roifman Syndrome. These data extend the spectrum of pathogenic variants in RNU4ATAC.
Compound heterozygosity of a previously described pathogenic variant and a second novel nucleotide substitution (NR_023343.1:n.116A>C) affecting a highly conserved nucleotide in the noncoding RNU4ATAC gene could be identified in a patient with overlapping features of Roifman Syndrome. These data extend the spectrum of pathogenic variants in RNU4ATAC.</description><subject>Case Report</subject><subject>Case Reports</subject><subject>clinical exome sequencing</subject><subject>minor intron splicing</subject><subject>NR_023343.1:n.116A>C</subject><subject>NR_023343.1:n.13C>T</subject><subject>RNU4ATAC</subject><subject>Roifman Syndrome</subject><subject>snRNA U4atac</subject><issn>2050-0904</issn><issn>2050-0904</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2018</creationdate><recordtype>article</recordtype><sourceid>24P</sourceid><sourceid>BENPR</sourceid><recordid>eNp1kcFO4zAURa3RoCkqLOYHkCVWs2h5dpyk3iBVEQwjoUHq0LXlOC-tUWMXJ6V0N5_AN_IluC0gWLCyLZ93fK1LyE8GQwbAz4wJyZCNEvhGDjmkMAAJ4vuHfY8ct-0dADDIecrgB-klINJU8uyQrC8eO3SVdTPazZGaYDtr9IIGnFnvWlr7QJtVp7vdybod5bx7_v9k_G5shg7p5O9UjG_HxZbQzkco0GUcQtfRte3mdOJt3WhH_21cFXyDR-Sg1osWj1_XPpleXtwWV4Prm99_ivH1wIj4uwGTLBNcsIznyErGMxSYpXUFsgReSsZzAVBpoc2oHlWsSlHWpR6BBpR5JqqkT8733uWqbLAyMVDQC7UMttFho7y26vONs3M18w8q4wlkQkbB6asg-PsVtp2686vgYmbFWcLyRHIuIvVrT5ng2zZg_f4CA7WtSW1rUtuaInvyMdI7-VZKBM72wNoucPO1SRXFJNkpXwC65p2u</recordid><startdate>201811</startdate><enddate>201811</enddate><creator>Hallermayr, Ariane</creator><creator>Graf, Janine</creator><creator>Koehler, Udo</creator><creator>Laner, Andreas</creator><creator>Schönfeld, Brigitte</creator><creator>Benet‐Pagès, Anna</creator><creator>Holinski‐Feder, Elke</creator><general>John Wiley & Sons, Inc</general><general>John Wiley and Sons Inc</general><scope>24P</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9.</scope><scope>M0S</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0002-6503-1874</orcidid></search><sort><creationdate>201811</creationdate><title>Extending the critical regions for mutations in the non‐coding gene RNU4ATAC in another patient with Roifman Syndrome</title><author>Hallermayr, Ariane ; Graf, Janine ; Koehler, Udo ; Laner, Andreas ; Schönfeld, Brigitte ; Benet‐Pagès, Anna ; Holinski‐Feder, Elke</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4100-19164241627e1b126e4e65fd09b02b9127400da4ac8f8d1d5e9fba80a0e9764d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2018</creationdate><topic>Case Report</topic><topic>Case Reports</topic><topic>clinical exome sequencing</topic><topic>minor intron splicing</topic><topic>NR_023343.1:n.116A>C</topic><topic>NR_023343.1:n.13C>T</topic><topic>RNU4ATAC</topic><topic>Roifman Syndrome</topic><topic>snRNA U4atac</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Hallermayr, Ariane</creatorcontrib><creatorcontrib>Graf, Janine</creatorcontrib><creatorcontrib>Koehler, Udo</creatorcontrib><creatorcontrib>Laner, Andreas</creatorcontrib><creatorcontrib>Schönfeld, Brigitte</creatorcontrib><creatorcontrib>Benet‐Pagès, Anna</creatorcontrib><creatorcontrib>Holinski‐Feder, Elke</creatorcontrib><collection>Wiley Online Library Open Access</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</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 Essentials</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Publicly Available Content Database</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>PubMed Central (Full Participant titles)</collection><jtitle>Clinical case reports</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Hallermayr, Ariane</au><au>Graf, Janine</au><au>Koehler, Udo</au><au>Laner, Andreas</au><au>Schönfeld, Brigitte</au><au>Benet‐Pagès, Anna</au><au>Holinski‐Feder, Elke</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Extending the critical regions for mutations in the non‐coding gene RNU4ATAC in another patient with Roifman Syndrome</atitle><jtitle>Clinical case reports</jtitle><addtitle>Clin Case Rep</addtitle><date>2018-11</date><risdate>2018</risdate><volume>6</volume><issue>11</issue><spage>2224</spage><epage>2228</epage><pages>2224-2228</pages><issn>2050-0904</issn><eissn>2050-0904</eissn><abstract>Key Clinical Message
Compound heterozygosity of a previously described pathogenic variant and a second novel nucleotide substitution (NR_023343.1:n.116A>C) affecting a highly conserved nucleotide in the noncoding RNU4ATAC gene could be identified in a patient with overlapping features of Roifman Syndrome. These data extend the spectrum of pathogenic variants in RNU4ATAC.
Compound heterozygosity of a previously described pathogenic variant and a second novel nucleotide substitution (NR_023343.1:n.116A>C) affecting a highly conserved nucleotide in the noncoding RNU4ATAC gene could be identified in a patient with overlapping features of Roifman Syndrome. These data extend the spectrum of pathogenic variants in RNU4ATAC.</abstract><cop>England</cop><pub>John Wiley & Sons, Inc</pub><pmid>30455926</pmid><doi>10.1002/ccr3.1830</doi><tpages>5</tpages><orcidid>https://orcid.org/0000-0002-6503-1874</orcidid><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 2050-0904 |
| ispartof | Clinical case reports, 2018-11, Vol.6 (11), p.2224-2228 |
| issn | 2050-0904 2050-0904 |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6230649 |
| source | Wiley Online Library Open Access; DOAJ Directory of Open Access Journals; Wiley Online Library Journals Frontfile Complete; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central |
| subjects | Case Report Case Reports clinical exome sequencing minor intron splicing NR_023343.1:n.116A>C NR_023343.1:n.13C>T RNU4ATAC Roifman Syndrome snRNA U4atac |
| title | Extending the critical regions for mutations in the non‐coding gene RNU4ATAC in another patient with Roifman Syndrome |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-02-02T00%3A10%3A22IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Extending%20the%20critical%20regions%20for%20mutations%20in%20the%20non%E2%80%90coding%20gene%20RNU4ATAC%20in%20another%20patient%20with%20Roifman%20Syndrome&rft.jtitle=Clinical%20case%20reports&rft.au=Hallermayr,%20Ariane&rft.date=2018-11&rft.volume=6&rft.issue=11&rft.spage=2224&rft.epage=2228&rft.pages=2224-2228&rft.issn=2050-0904&rft.eissn=2050-0904&rft_id=info:doi/10.1002/ccr3.1830&rft_dat=%3Cproquest_pubme%3E2131739224%3C/proquest_pubme%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=2131739224&rft_id=info:pmid/30455926&rfr_iscdi=true |