Loading…
Preliminary Screening of a Familial Tuberous Sclerosis Complex Pathogenic Gene
The aim of this study was to screen the possible pathogenic genes of one family with tuberous sclerosis complexes (TSCs). All family members were examined through detailed clinical evaluations, auxiliary examinations and CT. Then, we selected five members from this TSC family as the test samples. Th...
Saved in:
| Published in: | International journal of general medicine 2022-05, Vol.15, p.5247-5252 |
|---|---|
| Main Authors: | , , , , , , |
| Format: | Article |
| Language: | English |
| Subjects: | |
| Citations: | Items that this one cites |
| Online Access: | Get full text |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| cited_by | |
|---|---|
| cites | cdi_FETCH-LOGICAL-c435t-d1f8fdac027aa38fba7fb9a6228cf0f42e6c3415911ea791e2aad81e928532573 |
| container_end_page | 5252 |
| container_issue | |
| container_start_page | 5247 |
| container_title | International journal of general medicine |
| container_volume | 15 |
| creator | Wang, Yuting Hu, SongNian Tan, XinYu Sang, Qingqing Shi, Peng Wang, Chun Sang, Daoqian |
| description | The aim of this study was to screen the possible pathogenic genes of one family with tuberous sclerosis complexes (TSCs).
All family members were examined through detailed clinical evaluations, auxiliary examinations and CT. Then, we selected five members from this TSC family as the test samples. They were analysed by a new exon group sequencing method. Single nucleotide polymorphisms (SNPs) were screened by using databases, such as dbSNP and HAPMAP, and then the candidate genes were selected. Genes were analysed, and finally, the most likely mutation sites were screened. The results were examined by Sanger sequencing.
In this TSC family, we identified c.913+2T>G, a splicing site mutation in the 9th intron region of TSC1. Family members without TSC did not have this mutation.
The mutations in the intron regions cannot be ruled out as a pathogenic factor for TSC. |
| doi_str_mv | 10.2147/IJGM.S359702 |
| format | article |
| fullrecord | <record><control><sourceid>gale_doaj_</sourceid><recordid>TN_cdi_doaj_primary_oai_doaj_org_article_15a5de2a9eb3485b90e9827ab6c1148d</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><galeid>A707472095</galeid><doaj_id>oai_doaj_org_article_15a5de2a9eb3485b90e9827ab6c1148d</doaj_id><sourcerecordid>A707472095</sourcerecordid><originalsourceid>FETCH-LOGICAL-c435t-d1f8fdac027aa38fba7fb9a6228cf0f42e6c3415911ea791e2aad81e928532573</originalsourceid><addsrcrecordid>eNptkt9v0zAQxyMEYlvhjWcUCQntgRb_iGPnBWmqWCkaMGnj2bo459aTE5c4QfDf49AytRLyg63z577--u6y7BUlC0YL-X79efVlccdFJQl7kp1TKtVcElk8PTqfZRcxPhBSliXlz7MzLkpBSynOs6-3PXrXug763_md6RE7123yYHPIr6F13oHP78ca-zDGBPh0iC7my9DuPP7Kb2HYhk1KMvkKO3yRPbPgI7487LPs-_XH--Wn-c231Xp5dTM3BRfDvKFW2QYMYRKAK1uDtHUFJWPKWGILhqXhBRUVpQiyosgAGkWxYkpwJiSfZeu9bhPgQe961yb_OoDTfwOh32joB5fsaipANEmgwpoXStQVwUqld-vSUFqoJml92GvtxrrFxmA39OBPRE9vOrfVm_BTV1QQmQzNssuDQB9-jBgH3bpo0HvoMFVNs1Ky1BxaqoS-2aMbSNZcZ0NSNBOur6ZGSUaqSXDxHyqtBltnQofWpfhJwtujhC2CH7Yx-HFwoYun4Ls9aFIbY4_28ZuU6Gmc9DRO-jBOCX99XJpH-N_88D-1NcQF</addsrcrecordid><sourcetype>Open Website</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2672702168</pqid></control><display><type>article</type><title>Preliminary Screening of a Familial Tuberous Sclerosis Complex Pathogenic Gene</title><source>PubMed (Medline)</source><source>Publicly Available Content Database</source><source>Taylor & Francis Open Access Journals</source><creator>Wang, Yuting ; Hu, SongNian ; Tan, XinYu ; Sang, Qingqing ; Shi, Peng ; Wang, Chun ; Sang, Daoqian</creator><creatorcontrib>Wang, Yuting ; Hu, SongNian ; Tan, XinYu ; Sang, Qingqing ; Shi, Peng ; Wang, Chun ; Sang, Daoqian</creatorcontrib><description>The aim of this study was to screen the possible pathogenic genes of one family with tuberous sclerosis complexes (TSCs).
All family members were examined through detailed clinical evaluations, auxiliary examinations and CT. Then, we selected five members from this TSC family as the test samples. They were analysed by a new exon group sequencing method. Single nucleotide polymorphisms (SNPs) were screened by using databases, such as dbSNP and HAPMAP, and then the candidate genes were selected. Genes were analysed, and finally, the most likely mutation sites were screened. The results were examined by Sanger sequencing.
In this TSC family, we identified c.913+2T>G, a splicing site mutation in the 9th intron region of TSC1. Family members without TSC did not have this mutation.
The mutations in the intron regions cannot be ruled out as a pathogenic factor for TSC.</description><identifier>ISSN: 1178-7074</identifier><identifier>EISSN: 1178-7074</identifier><identifier>DOI: 10.2147/IJGM.S359702</identifier><identifier>PMID: 35651675</identifier><language>eng</language><publisher>New Zealand: Dove Medical Press Limited</publisher><subject>DNA sequencing ; Ethylenediaminetetraacetic acid ; Genes ; intron mutation ; Nucleotide sequencing ; Original Research ; pathogenic genes ; Single nucleotide polymorphisms ; Tuberous sclerosis ; tuberous sclerosis complex ; whole exon sequencing</subject><ispartof>International journal of general medicine, 2022-05, Vol.15, p.5247-5252</ispartof><rights>2022 Wang et al.</rights><rights>COPYRIGHT 2022 Dove Medical Press Limited</rights><rights>2022 Wang et al. 2022 Wang et al.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c435t-d1f8fdac027aa38fba7fb9a6228cf0f42e6c3415911ea791e2aad81e928532573</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC9150785/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC9150785/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,881,27903,27904,36992,53769,53771</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/35651675$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Wang, Yuting</creatorcontrib><creatorcontrib>Hu, SongNian</creatorcontrib><creatorcontrib>Tan, XinYu</creatorcontrib><creatorcontrib>Sang, Qingqing</creatorcontrib><creatorcontrib>Shi, Peng</creatorcontrib><creatorcontrib>Wang, Chun</creatorcontrib><creatorcontrib>Sang, Daoqian</creatorcontrib><title>Preliminary Screening of a Familial Tuberous Sclerosis Complex Pathogenic Gene</title><title>International journal of general medicine</title><addtitle>Int J Gen Med</addtitle><description>The aim of this study was to screen the possible pathogenic genes of one family with tuberous sclerosis complexes (TSCs).
All family members were examined through detailed clinical evaluations, auxiliary examinations and CT. Then, we selected five members from this TSC family as the test samples. They were analysed by a new exon group sequencing method. Single nucleotide polymorphisms (SNPs) were screened by using databases, such as dbSNP and HAPMAP, and then the candidate genes were selected. Genes were analysed, and finally, the most likely mutation sites were screened. The results were examined by Sanger sequencing.
In this TSC family, we identified c.913+2T>G, a splicing site mutation in the 9th intron region of TSC1. Family members without TSC did not have this mutation.
The mutations in the intron regions cannot be ruled out as a pathogenic factor for TSC.</description><subject>DNA sequencing</subject><subject>Ethylenediaminetetraacetic acid</subject><subject>Genes</subject><subject>intron mutation</subject><subject>Nucleotide sequencing</subject><subject>Original Research</subject><subject>pathogenic genes</subject><subject>Single nucleotide polymorphisms</subject><subject>Tuberous sclerosis</subject><subject>tuberous sclerosis complex</subject><subject>whole exon sequencing</subject><issn>1178-7074</issn><issn>1178-7074</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2022</creationdate><recordtype>article</recordtype><sourceid>DOA</sourceid><recordid>eNptkt9v0zAQxyMEYlvhjWcUCQntgRb_iGPnBWmqWCkaMGnj2bo459aTE5c4QfDf49AytRLyg63z577--u6y7BUlC0YL-X79efVlccdFJQl7kp1TKtVcElk8PTqfZRcxPhBSliXlz7MzLkpBSynOs6-3PXrXug763_md6RE7123yYHPIr6F13oHP78ca-zDGBPh0iC7my9DuPP7Kb2HYhk1KMvkKO3yRPbPgI7487LPs-_XH--Wn-c231Xp5dTM3BRfDvKFW2QYMYRKAK1uDtHUFJWPKWGILhqXhBRUVpQiyosgAGkWxYkpwJiSfZeu9bhPgQe961yb_OoDTfwOh32joB5fsaipANEmgwpoXStQVwUqld-vSUFqoJml92GvtxrrFxmA39OBPRE9vOrfVm_BTV1QQmQzNssuDQB9-jBgH3bpo0HvoMFVNs1Ky1BxaqoS-2aMbSNZcZ0NSNBOur6ZGSUaqSXDxHyqtBltnQofWpfhJwtujhC2CH7Yx-HFwoYun4Ls9aFIbY4_28ZuU6Gmc9DRO-jBOCX99XJpH-N_88D-1NcQF</recordid><startdate>20220531</startdate><enddate>20220531</enddate><creator>Wang, Yuting</creator><creator>Hu, SongNian</creator><creator>Tan, XinYu</creator><creator>Sang, Qingqing</creator><creator>Shi, Peng</creator><creator>Wang, Chun</creator><creator>Sang, Daoqian</creator><general>Dove Medical Press Limited</general><general>Dove</general><general>Dove Medical Press</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><scope>5PM</scope><scope>DOA</scope></search><sort><creationdate>20220531</creationdate><title>Preliminary Screening of a Familial Tuberous Sclerosis Complex Pathogenic Gene</title><author>Wang, Yuting ; Hu, SongNian ; Tan, XinYu ; Sang, Qingqing ; Shi, Peng ; Wang, Chun ; Sang, Daoqian</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c435t-d1f8fdac027aa38fba7fb9a6228cf0f42e6c3415911ea791e2aad81e928532573</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2022</creationdate><topic>DNA sequencing</topic><topic>Ethylenediaminetetraacetic acid</topic><topic>Genes</topic><topic>intron mutation</topic><topic>Nucleotide sequencing</topic><topic>Original Research</topic><topic>pathogenic genes</topic><topic>Single nucleotide polymorphisms</topic><topic>Tuberous sclerosis</topic><topic>tuberous sclerosis complex</topic><topic>whole exon sequencing</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Wang, Yuting</creatorcontrib><creatorcontrib>Hu, SongNian</creatorcontrib><creatorcontrib>Tan, XinYu</creatorcontrib><creatorcontrib>Sang, Qingqing</creatorcontrib><creatorcontrib>Shi, Peng</creatorcontrib><creatorcontrib>Wang, Chun</creatorcontrib><creatorcontrib>Sang, Daoqian</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><collection>Directory of Open Access Journals (DOAJ)</collection><jtitle>International journal of general medicine</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Wang, Yuting</au><au>Hu, SongNian</au><au>Tan, XinYu</au><au>Sang, Qingqing</au><au>Shi, Peng</au><au>Wang, Chun</au><au>Sang, Daoqian</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Preliminary Screening of a Familial Tuberous Sclerosis Complex Pathogenic Gene</atitle><jtitle>International journal of general medicine</jtitle><addtitle>Int J Gen Med</addtitle><date>2022-05-31</date><risdate>2022</risdate><volume>15</volume><spage>5247</spage><epage>5252</epage><pages>5247-5252</pages><issn>1178-7074</issn><eissn>1178-7074</eissn><abstract>The aim of this study was to screen the possible pathogenic genes of one family with tuberous sclerosis complexes (TSCs).
All family members were examined through detailed clinical evaluations, auxiliary examinations and CT. Then, we selected five members from this TSC family as the test samples. They were analysed by a new exon group sequencing method. Single nucleotide polymorphisms (SNPs) were screened by using databases, such as dbSNP and HAPMAP, and then the candidate genes were selected. Genes were analysed, and finally, the most likely mutation sites were screened. The results were examined by Sanger sequencing.
In this TSC family, we identified c.913+2T>G, a splicing site mutation in the 9th intron region of TSC1. Family members without TSC did not have this mutation.
The mutations in the intron regions cannot be ruled out as a pathogenic factor for TSC.</abstract><cop>New Zealand</cop><pub>Dove Medical Press Limited</pub><pmid>35651675</pmid><doi>10.2147/IJGM.S359702</doi><tpages>6</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1178-7074 |
| ispartof | International journal of general medicine, 2022-05, Vol.15, p.5247-5252 |
| issn | 1178-7074 1178-7074 |
| language | eng |
| recordid | cdi_doaj_primary_oai_doaj_org_article_15a5de2a9eb3485b90e9827ab6c1148d |
| source | PubMed (Medline); Publicly Available Content Database; Taylor & Francis Open Access Journals |
| subjects | DNA sequencing Ethylenediaminetetraacetic acid Genes intron mutation Nucleotide sequencing Original Research pathogenic genes Single nucleotide polymorphisms Tuberous sclerosis tuberous sclerosis complex whole exon sequencing |
| title | Preliminary Screening of a Familial Tuberous Sclerosis Complex Pathogenic Gene |
| url | http://sfxeu10.hosted.exlibrisgroup.com/loughborough?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-24T23%3A34%3A30IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-gale_doaj_&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Preliminary%20Screening%20of%20a%20Familial%20Tuberous%20Sclerosis%20Complex%20Pathogenic%20Gene&rft.jtitle=International%20journal%20of%20general%20medicine&rft.au=Wang,%20Yuting&rft.date=2022-05-31&rft.volume=15&rft.spage=5247&rft.epage=5252&rft.pages=5247-5252&rft.issn=1178-7074&rft.eissn=1178-7074&rft_id=info:doi/10.2147/IJGM.S359702&rft_dat=%3Cgale_doaj_%3EA707472095%3C/gale_doaj_%3E%3Cgrp_id%3Ecdi_FETCH-LOGICAL-c435t-d1f8fdac027aa38fba7fb9a6228cf0f42e6c3415911ea791e2aad81e928532573%3C/grp_id%3E%3Coa%3E%3C/oa%3E%3Curl%3E%3C/url%3E&rft_id=info:oai/&rft_pqid=2672702168&rft_id=info:pmid/35651675&rft_galeid=A707472095&rfr_iscdi=true |