Targeted massively parallel sequencing for congenital generalized lipodystrophy
Our aim is to establish genetic diagnosis of congenital generalized lipodystrophy (CGL) using targeted massively parallel sequencing (MPS), also known as next-generation sequencing (NGS). Nine unrelated individuals with a clinical diagnosis of CGL were recruited. We used a customized panel to captur...
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| Veröffentlicht in: | Archives of Endocrinology and Metabolism 2021-05, Vol.64 (5), p.559-566 |
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| creator | Costa-Riquetto, Aline D Santana, Lucas S Caetano, Lílian A Lerário, Antônio M Correia-Deur, Joya E M Bertola, Débora R Kim, Chong A Nery, Márcia Jorge, Alexander A L Teles, Milena G |
| description | Our aim is to establish genetic diagnosis of congenital generalized lipodystrophy (CGL) using targeted massively parallel sequencing (MPS), also known as next-generation sequencing (NGS).
Nine unrelated individuals with a clinical diagnosis of CGL were recruited. We used a customized panel to capture genes related to genetic lipodystrophies. DNA libraries were generated, sequenced using the Illumina MiSeq, and bioinformatics analysis was performed.
An accurate genetic diagnosis was stated for all nine patients. Four had pathogenic variants in
and three in
. Three large homozygous deletions in
were identified by copy-number variant analysis.
Although we have found allelic variants in only 2 genes related to CGL, the panel was able to identify different variants including deletions that would have been missed by Sanger sequencing. We believe that MPS is a valuable tool for the genetic diagnosis of multi-genes related diseases, including CGL. |
| doi_str_mv | 10.20945/2359-3997000000278 |
| format | Article |
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Nine unrelated individuals with a clinical diagnosis of CGL were recruited. We used a customized panel to capture genes related to genetic lipodystrophies. DNA libraries were generated, sequenced using the Illumina MiSeq, and bioinformatics analysis was performed.
An accurate genetic diagnosis was stated for all nine patients. Four had pathogenic variants in
and three in
. Three large homozygous deletions in
were identified by copy-number variant analysis.
Although we have found allelic variants in only 2 genes related to CGL, the panel was able to identify different variants including deletions that would have been missed by Sanger sequencing. We believe that MPS is a valuable tool for the genetic diagnosis of multi-genes related diseases, including CGL.</description><identifier>ISSN: 2359-3997</identifier><identifier>EISSN: 2359-4292</identifier><identifier>DOI: 10.20945/2359-3997000000278</identifier><identifier>PMID: 34033296</identifier><language>eng</language><publisher>Brazil: Sociedade Brasileira de Endocrinologia e Metabologia</publisher><subject>Alleles ; Berardinelli-Seip syndrome ; Congenital generalized lipodystrophy ; deep sequencing ; GTP-Binding Protein gamma Subunits - genetics ; High-Throughput Nucleotide Sequencing ; Humans ; Lipodystrophy - diagnosis ; Lipodystrophy - genetics ; Lipodystrophy, Congenital Generalized - diagnosis ; Lipodystrophy, Congenital Generalized - genetics ; massively parallel sequencing ; Mutation - genetics ; Original</subject><ispartof>Archives of Endocrinology and Metabolism, 2021-05, Vol.64 (5), p.559-566</ispartof><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c3768-1dad0d3d97a9595892f6e39439bb0326debec6b41af1ee5d2f8fcaa1fefe3ed23</cites><orcidid>0000-0002-5347-9321 ; 0000-0003-2415-9668 ; 0000-0002-9799-6662 ; 0000-0002-8336-6432 ; 0000-0002-4701-6777 ; 0000-0003-2567-7360 ; 0000-0002-0303-5335 ; 0000-0002-1754-1300 ; 0000-0003-0428-2386 ; 0000-0002-4645-5858</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/PMC10118969/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC10118969/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,864,885,27924,27925,53791,53793</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/34033296$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Costa-Riquetto, Aline D</creatorcontrib><creatorcontrib>Santana, Lucas S</creatorcontrib><creatorcontrib>Caetano, Lílian A</creatorcontrib><creatorcontrib>Lerário, Antônio M</creatorcontrib><creatorcontrib>Correia-Deur, Joya E M</creatorcontrib><creatorcontrib>Bertola, Débora R</creatorcontrib><creatorcontrib>Kim, Chong A</creatorcontrib><creatorcontrib>Nery, Márcia</creatorcontrib><creatorcontrib>Jorge, Alexander A L</creatorcontrib><creatorcontrib>Teles, Milena G</creatorcontrib><title>Targeted massively parallel sequencing for congenital generalized lipodystrophy</title><title>Archives of Endocrinology and Metabolism</title><addtitle>Arch Endocrinol Metab</addtitle><description>Our aim is to establish genetic diagnosis of congenital generalized lipodystrophy (CGL) using targeted massively parallel sequencing (MPS), also known as next-generation sequencing (NGS).
Nine unrelated individuals with a clinical diagnosis of CGL were recruited. We used a customized panel to capture genes related to genetic lipodystrophies. DNA libraries were generated, sequenced using the Illumina MiSeq, and bioinformatics analysis was performed.
An accurate genetic diagnosis was stated for all nine patients. Four had pathogenic variants in
and three in
. Three large homozygous deletions in
were identified by copy-number variant analysis.
Although we have found allelic variants in only 2 genes related to CGL, the panel was able to identify different variants including deletions that would have been missed by Sanger sequencing. We believe that MPS is a valuable tool for the genetic diagnosis of multi-genes related diseases, including CGL.</description><subject>Alleles</subject><subject>Berardinelli-Seip syndrome</subject><subject>Congenital generalized lipodystrophy</subject><subject>deep sequencing</subject><subject>GTP-Binding Protein gamma Subunits - genetics</subject><subject>High-Throughput Nucleotide Sequencing</subject><subject>Humans</subject><subject>Lipodystrophy - diagnosis</subject><subject>Lipodystrophy - genetics</subject><subject>Lipodystrophy, Congenital Generalized - diagnosis</subject><subject>Lipodystrophy, Congenital Generalized - genetics</subject><subject>massively parallel sequencing</subject><subject>Mutation - genetics</subject><subject>Original</subject><issn>2359-3997</issn><issn>2359-4292</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2021</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>DOA</sourceid><recordid>eNpVkd1KJDEQhcOirKI-gbD0C4ybn06n60pEVlcQ5ma8DvmptJGeTm_SCrNPb8-MilM3VVTO-YpwCLlk9IpTqOVvLiQsBICiu-Kq_UFOd8uaAz_6mLeCE3JRysusYZIxVsuf5ETUVAgOzSlZrkzucEJfrU0p8Q37TTWabPoe-6rgv1ccXBy6KqRcuTR0OMTJ9NXccRbF_7Oxj2PymzLlND5vzslxMH3Bi49-Rp7u_qxu_y4el_cPtzePCydU0y6YN5564UEZkCBb4KFBAbUAa6ngjUeLrrE1M4EhSs9DG5wxLGBAgZ6LM_Kw5_pkXvSY49rkjU4m6t0i5U6bPEXXow41BZDOtrLldcu99cpSo5i1VoFCNbOu96zx1a7ROxym-W8H0MOXIT7rLr1pRhlroYGZIPYEl1MpGcOXmVG9y0tv49AHec2uX9_vfnk-0xHvw6aT6w</recordid><startdate>20210518</startdate><enddate>20210518</enddate><creator>Costa-Riquetto, Aline D</creator><creator>Santana, Lucas S</creator><creator>Caetano, Lílian A</creator><creator>Lerário, Antônio M</creator><creator>Correia-Deur, Joya E M</creator><creator>Bertola, Débora R</creator><creator>Kim, Chong A</creator><creator>Nery, Márcia</creator><creator>Jorge, Alexander A L</creator><creator>Teles, Milena G</creator><general>Sociedade Brasileira de Endocrinologia e Metabologia</general><general>Brazilian Society of Endocrinology and Metabolism</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>5PM</scope><scope>DOA</scope><orcidid>https://orcid.org/0000-0002-5347-9321</orcidid><orcidid>https://orcid.org/0000-0003-2415-9668</orcidid><orcidid>https://orcid.org/0000-0002-9799-6662</orcidid><orcidid>https://orcid.org/0000-0002-8336-6432</orcidid><orcidid>https://orcid.org/0000-0002-4701-6777</orcidid><orcidid>https://orcid.org/0000-0003-2567-7360</orcidid><orcidid>https://orcid.org/0000-0002-0303-5335</orcidid><orcidid>https://orcid.org/0000-0002-1754-1300</orcidid><orcidid>https://orcid.org/0000-0003-0428-2386</orcidid><orcidid>https://orcid.org/0000-0002-4645-5858</orcidid></search><sort><creationdate>20210518</creationdate><title>Targeted massively parallel sequencing for congenital generalized lipodystrophy</title><author>Costa-Riquetto, Aline D ; Santana, Lucas S ; Caetano, Lílian A ; Lerário, Antônio M ; Correia-Deur, Joya E M ; Bertola, Débora R ; Kim, Chong A ; Nery, Márcia ; Jorge, Alexander A L ; Teles, Milena G</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3768-1dad0d3d97a9595892f6e39439bb0326debec6b41af1ee5d2f8fcaa1fefe3ed23</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2021</creationdate><topic>Alleles</topic><topic>Berardinelli-Seip syndrome</topic><topic>Congenital generalized lipodystrophy</topic><topic>deep sequencing</topic><topic>GTP-Binding Protein gamma Subunits - genetics</topic><topic>High-Throughput Nucleotide Sequencing</topic><topic>Humans</topic><topic>Lipodystrophy - diagnosis</topic><topic>Lipodystrophy - genetics</topic><topic>Lipodystrophy, Congenital Generalized - diagnosis</topic><topic>Lipodystrophy, Congenital Generalized - genetics</topic><topic>massively parallel sequencing</topic><topic>Mutation - genetics</topic><topic>Original</topic><toplevel>online_resources</toplevel><creatorcontrib>Costa-Riquetto, Aline D</creatorcontrib><creatorcontrib>Santana, Lucas S</creatorcontrib><creatorcontrib>Caetano, Lílian A</creatorcontrib><creatorcontrib>Lerário, Antônio M</creatorcontrib><creatorcontrib>Correia-Deur, Joya E M</creatorcontrib><creatorcontrib>Bertola, Débora R</creatorcontrib><creatorcontrib>Kim, Chong A</creatorcontrib><creatorcontrib>Nery, Márcia</creatorcontrib><creatorcontrib>Jorge, Alexander A L</creatorcontrib><creatorcontrib>Teles, Milena G</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>PubMed Central (Full Participant titles)</collection><collection>TestCollectionTL3OpenAccess</collection><jtitle>Archives of Endocrinology and Metabolism</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Costa-Riquetto, Aline D</au><au>Santana, Lucas S</au><au>Caetano, Lílian A</au><au>Lerário, Antônio M</au><au>Correia-Deur, Joya E M</au><au>Bertola, Débora R</au><au>Kim, Chong A</au><au>Nery, Márcia</au><au>Jorge, Alexander A L</au><au>Teles, Milena G</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Targeted massively parallel sequencing for congenital generalized lipodystrophy</atitle><jtitle>Archives of Endocrinology and Metabolism</jtitle><addtitle>Arch Endocrinol Metab</addtitle><date>2021-05-18</date><risdate>2021</risdate><volume>64</volume><issue>5</issue><spage>559</spage><epage>566</epage><pages>559-566</pages><issn>2359-3997</issn><eissn>2359-4292</eissn><abstract>Our aim is to establish genetic diagnosis of congenital generalized lipodystrophy (CGL) using targeted massively parallel sequencing (MPS), also known as next-generation sequencing (NGS).
Nine unrelated individuals with a clinical diagnosis of CGL were recruited. We used a customized panel to capture genes related to genetic lipodystrophies. DNA libraries were generated, sequenced using the Illumina MiSeq, and bioinformatics analysis was performed.
An accurate genetic diagnosis was stated for all nine patients. Four had pathogenic variants in
and three in
. Three large homozygous deletions in
were identified by copy-number variant analysis.
Although we have found allelic variants in only 2 genes related to CGL, the panel was able to identify different variants including deletions that would have been missed by Sanger sequencing. We believe that MPS is a valuable tool for the genetic diagnosis of multi-genes related diseases, including CGL.</abstract><cop>Brazil</cop><pub>Sociedade Brasileira de Endocrinologia e Metabologia</pub><pmid>34033296</pmid><doi>10.20945/2359-3997000000278</doi><tpages>8</tpages><orcidid>https://orcid.org/0000-0002-5347-9321</orcidid><orcidid>https://orcid.org/0000-0003-2415-9668</orcidid><orcidid>https://orcid.org/0000-0002-9799-6662</orcidid><orcidid>https://orcid.org/0000-0002-8336-6432</orcidid><orcidid>https://orcid.org/0000-0002-4701-6777</orcidid><orcidid>https://orcid.org/0000-0003-2567-7360</orcidid><orcidid>https://orcid.org/0000-0002-0303-5335</orcidid><orcidid>https://orcid.org/0000-0002-1754-1300</orcidid><orcidid>https://orcid.org/0000-0003-0428-2386</orcidid><orcidid>https://orcid.org/0000-0002-4645-5858</orcidid><oa>free_for_read</oa></addata></record> |
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| subjects | Alleles Berardinelli-Seip syndrome Congenital generalized lipodystrophy deep sequencing GTP-Binding Protein gamma Subunits - genetics High-Throughput Nucleotide Sequencing Humans Lipodystrophy - diagnosis Lipodystrophy - genetics Lipodystrophy, Congenital Generalized - diagnosis Lipodystrophy, Congenital Generalized - genetics massively parallel sequencing Mutation - genetics Original |
| title | Targeted massively parallel sequencing for congenital generalized lipodystrophy |
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