Disparate phenotypes in two unfavorable pregnancies due to maternal mosaicism of a novel RET gene mutation
Mutations in RET have been found in multiple diseases including isolated and associated congenital anomalies. Here, we report a case presented with disparate phenotypes in each pregnancy but caused by the same novel mutation. Whole-exome sequencing (WES) was performed on the proband/abortion product...
Gespeichert in:
| Veröffentlicht in: | Clinica chimica acta 2022-06, Vol.531, p.84-90 |
|---|---|
| Hauptverfasser: | , , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 90 |
|---|---|
| container_issue | |
| container_start_page | 84 |
| container_title | Clinica chimica acta |
| container_volume | 531 |
| creator | Zhang, Fang Wang, Zhiwei Meng, Qian Song, Jiedong Yang, Shuting Tang, Xinxin Zhao, Yali Men, Shuai Wang, Leilei |
| description | Mutations in RET have been found in multiple diseases including isolated and associated congenital anomalies. Here, we report a case presented with disparate phenotypes in each pregnancy but caused by the same novel mutation. Whole-exome sequencing (WES) was performed on the proband/abortion product-parental trio and a novel missense variant in RET (chr10:43615610C > G; c.2689C > G; p.Arg897Gly) was identified. The mother was a low-level somatic carrier of this new mutation, with 17.3% in blood, 19.1% in oralmucous membrane, and 15.7% in urine by droplet digital polymerase chain reaction (dd PCR). Our finding not only broadens the mutation spectrum of RET but also gives supportive genetic counseling and timely guidance on fertility choices. |
| doi_str_mv | 10.1016/j.cca.2022.03.015 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_2644360933</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><els_id>S0009898122001061</els_id><sourcerecordid>2644360933</sourcerecordid><originalsourceid>FETCH-LOGICAL-c348t-566effc1a64335984c16bf02776482351d9f1208022ce39c2f7202f6b079f9a03</originalsourceid><addsrcrecordid>eNp9kMtq3DAUhkVJaaZpH6CbomU2dnWzbJFVya2FQKCka6GRj1INtuRI8oS8fRQmzTKrw-G_wP8h9I2SlhIqf-xaa03LCGMt4S2h3Qe0oUPPGy4UO0IbQohqBjXQY_Q55119BZH0EzrmHRe0l3yDdhc-LyaZAnj5ByGWpwUy9gGXx4jX4Mw-JrOdqprgPphgfZXHFXCJeK6pFMyE55iNtz7PODpscIh7mPCfyzt8DwHwvBZTfAxf0EdnpgxfX-8J-nt1eXf-q7m5vf59_vOmsVwMpemkBOcsNVJw3qlBWCq3jrC-l2JgvKOjcpSRoa62wJVlrq8EnNySXjllCD9Bp4feJcWHFXLRs88WpskEiGvWTArBJVGcVys9WG2KOSdwekl-NulJU6JfEOudroj1C2JNuK6Ia-b7a_26nWF8S_xnWg1nBwPUkXsPSedKLVgYfQJb9Bj9O_XP7WuLxw</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2644360933</pqid></control><display><type>article</type><title>Disparate phenotypes in two unfavorable pregnancies due to maternal mosaicism of a novel RET gene mutation</title><source>Elsevier ScienceDirect Journals</source><creator>Zhang, Fang ; Wang, Zhiwei ; Meng, Qian ; Song, Jiedong ; Yang, Shuting ; Tang, Xinxin ; Zhao, Yali ; Men, Shuai ; Wang, Leilei</creator><creatorcontrib>Zhang, Fang ; Wang, Zhiwei ; Meng, Qian ; Song, Jiedong ; Yang, Shuting ; Tang, Xinxin ; Zhao, Yali ; Men, Shuai ; Wang, Leilei</creatorcontrib><description>Mutations in RET have been found in multiple diseases including isolated and associated congenital anomalies. Here, we report a case presented with disparate phenotypes in each pregnancy but caused by the same novel mutation. Whole-exome sequencing (WES) was performed on the proband/abortion product-parental trio and a novel missense variant in RET (chr10:43615610C > G; c.2689C > G; p.Arg897Gly) was identified. The mother was a low-level somatic carrier of this new mutation, with 17.3% in blood, 19.1% in oralmucous membrane, and 15.7% in urine by droplet digital polymerase chain reaction (dd PCR). Our finding not only broadens the mutation spectrum of RET but also gives supportive genetic counseling and timely guidance on fertility choices.</description><identifier>ISSN: 0009-8981</identifier><identifier>EISSN: 1873-3492</identifier><identifier>DOI: 10.1016/j.cca.2022.03.015</identifier><identifier>PMID: 35341763</identifier><language>eng</language><publisher>Netherlands: Elsevier B.V</publisher><subject>ddPCR ; HSCR ; Missense variant ; Oligoamnios ; RET ; Whole-exome sequencing</subject><ispartof>Clinica chimica acta, 2022-06, Vol.531, p.84-90</ispartof><rights>2022 The Authors</rights><rights>Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c348t-566effc1a64335984c16bf02776482351d9f1208022ce39c2f7202f6b079f9a03</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0009898122001061$$EHTML$$P50$$Gelsevier$$Hfree_for_read</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65534</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/35341763$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Zhang, Fang</creatorcontrib><creatorcontrib>Wang, Zhiwei</creatorcontrib><creatorcontrib>Meng, Qian</creatorcontrib><creatorcontrib>Song, Jiedong</creatorcontrib><creatorcontrib>Yang, Shuting</creatorcontrib><creatorcontrib>Tang, Xinxin</creatorcontrib><creatorcontrib>Zhao, Yali</creatorcontrib><creatorcontrib>Men, Shuai</creatorcontrib><creatorcontrib>Wang, Leilei</creatorcontrib><title>Disparate phenotypes in two unfavorable pregnancies due to maternal mosaicism of a novel RET gene mutation</title><title>Clinica chimica acta</title><addtitle>Clin Chim Acta</addtitle><description>Mutations in RET have been found in multiple diseases including isolated and associated congenital anomalies. Here, we report a case presented with disparate phenotypes in each pregnancy but caused by the same novel mutation. Whole-exome sequencing (WES) was performed on the proband/abortion product-parental trio and a novel missense variant in RET (chr10:43615610C > G; c.2689C > G; p.Arg897Gly) was identified. The mother was a low-level somatic carrier of this new mutation, with 17.3% in blood, 19.1% in oralmucous membrane, and 15.7% in urine by droplet digital polymerase chain reaction (dd PCR). Our finding not only broadens the mutation spectrum of RET but also gives supportive genetic counseling and timely guidance on fertility choices.</description><subject>ddPCR</subject><subject>HSCR</subject><subject>Missense variant</subject><subject>Oligoamnios</subject><subject>RET</subject><subject>Whole-exome sequencing</subject><issn>0009-8981</issn><issn>1873-3492</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2022</creationdate><recordtype>article</recordtype><recordid>eNp9kMtq3DAUhkVJaaZpH6CbomU2dnWzbJFVya2FQKCka6GRj1INtuRI8oS8fRQmzTKrw-G_wP8h9I2SlhIqf-xaa03LCGMt4S2h3Qe0oUPPGy4UO0IbQohqBjXQY_Q55119BZH0EzrmHRe0l3yDdhc-LyaZAnj5ByGWpwUy9gGXx4jX4Mw-JrOdqprgPphgfZXHFXCJeK6pFMyE55iNtz7PODpscIh7mPCfyzt8DwHwvBZTfAxf0EdnpgxfX-8J-nt1eXf-q7m5vf59_vOmsVwMpemkBOcsNVJw3qlBWCq3jrC-l2JgvKOjcpSRoa62wJVlrq8EnNySXjllCD9Bp4feJcWHFXLRs88WpskEiGvWTArBJVGcVys9WG2KOSdwekl-NulJU6JfEOudroj1C2JNuK6Ia-b7a_26nWF8S_xnWg1nBwPUkXsPSedKLVgYfQJb9Bj9O_XP7WuLxw</recordid><startdate>20220601</startdate><enddate>20220601</enddate><creator>Zhang, Fang</creator><creator>Wang, Zhiwei</creator><creator>Meng, Qian</creator><creator>Song, Jiedong</creator><creator>Yang, Shuting</creator><creator>Tang, Xinxin</creator><creator>Zhao, Yali</creator><creator>Men, Shuai</creator><creator>Wang, Leilei</creator><general>Elsevier B.V</general><scope>6I.</scope><scope>AAFTH</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>20220601</creationdate><title>Disparate phenotypes in two unfavorable pregnancies due to maternal mosaicism of a novel RET gene mutation</title><author>Zhang, Fang ; Wang, Zhiwei ; Meng, Qian ; Song, Jiedong ; Yang, Shuting ; Tang, Xinxin ; Zhao, Yali ; Men, Shuai ; Wang, Leilei</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c348t-566effc1a64335984c16bf02776482351d9f1208022ce39c2f7202f6b079f9a03</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2022</creationdate><topic>ddPCR</topic><topic>HSCR</topic><topic>Missense variant</topic><topic>Oligoamnios</topic><topic>RET</topic><topic>Whole-exome sequencing</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Zhang, Fang</creatorcontrib><creatorcontrib>Wang, Zhiwei</creatorcontrib><creatorcontrib>Meng, Qian</creatorcontrib><creatorcontrib>Song, Jiedong</creatorcontrib><creatorcontrib>Yang, Shuting</creatorcontrib><creatorcontrib>Tang, Xinxin</creatorcontrib><creatorcontrib>Zhao, Yali</creatorcontrib><creatorcontrib>Men, Shuai</creatorcontrib><creatorcontrib>Wang, Leilei</creatorcontrib><collection>ScienceDirect Open Access Titles</collection><collection>Elsevier:ScienceDirect:Open Access</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Clinica chimica acta</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Zhang, Fang</au><au>Wang, Zhiwei</au><au>Meng, Qian</au><au>Song, Jiedong</au><au>Yang, Shuting</au><au>Tang, Xinxin</au><au>Zhao, Yali</au><au>Men, Shuai</au><au>Wang, Leilei</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Disparate phenotypes in two unfavorable pregnancies due to maternal mosaicism of a novel RET gene mutation</atitle><jtitle>Clinica chimica acta</jtitle><addtitle>Clin Chim Acta</addtitle><date>2022-06-01</date><risdate>2022</risdate><volume>531</volume><spage>84</spage><epage>90</epage><pages>84-90</pages><issn>0009-8981</issn><eissn>1873-3492</eissn><abstract>Mutations in RET have been found in multiple diseases including isolated and associated congenital anomalies. Here, we report a case presented with disparate phenotypes in each pregnancy but caused by the same novel mutation. Whole-exome sequencing (WES) was performed on the proband/abortion product-parental trio and a novel missense variant in RET (chr10:43615610C > G; c.2689C > G; p.Arg897Gly) was identified. The mother was a low-level somatic carrier of this new mutation, with 17.3% in blood, 19.1% in oralmucous membrane, and 15.7% in urine by droplet digital polymerase chain reaction (dd PCR). Our finding not only broadens the mutation spectrum of RET but also gives supportive genetic counseling and timely guidance on fertility choices.</abstract><cop>Netherlands</cop><pub>Elsevier B.V</pub><pmid>35341763</pmid><doi>10.1016/j.cca.2022.03.015</doi><tpages>7</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0009-8981 |
| ispartof | Clinica chimica acta, 2022-06, Vol.531, p.84-90 |
| issn | 0009-8981 1873-3492 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_2644360933 |
| source | Elsevier ScienceDirect Journals |
| subjects | ddPCR HSCR Missense variant Oligoamnios RET Whole-exome sequencing |
| title | Disparate phenotypes in two unfavorable pregnancies due to maternal mosaicism of a novel RET gene mutation |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-02-15T04%3A12%3A03IST&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=Disparate%20phenotypes%20in%20two%20unfavorable%20pregnancies%20due%20to%20maternal%20mosaicism%20of%20a%20novel%20RET%20gene%20mutation&rft.jtitle=Clinica%20chimica%20acta&rft.au=Zhang,%20Fang&rft.date=2022-06-01&rft.volume=531&rft.spage=84&rft.epage=90&rft.pages=84-90&rft.issn=0009-8981&rft.eissn=1873-3492&rft_id=info:doi/10.1016/j.cca.2022.03.015&rft_dat=%3Cproquest_cross%3E2644360933%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=2644360933&rft_id=info:pmid/35341763&rft_els_id=S0009898122001061&rfr_iscdi=true |