The Mutation Spectrum of Maturity Onset Diabetes of the Young (MODY)-Associated Genes among Western Siberia Patients
Maturity onset diabetes of the young (MODY) is a congenital form of diabetes characterized by onset at a young age and a primary defect in pancreatic-β-cell function. Currently, 14 subtypes of MODY are known, and each is associated with mutations in a specific gene: , , , , , , , , , , , , , and . T...
Gespeichert in:
| Veröffentlicht in: | Journal of personalized medicine 2021-01, Vol.11 (1), p.57 |
|---|---|
| Hauptverfasser: | , , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | |
|---|---|
| container_issue | 1 |
| container_start_page | 57 |
| container_title | Journal of personalized medicine |
| container_volume | 11 |
| creator | Ivanoshchuk, Dinara E Shakhtshneider, Elena V Rymar, Oksana D Ovsyannikova, Alla K Mikhailova, Svetlana V Fishman, Veniamin S Valeev, Emil S Orlov, Pavel S Voevoda, Mikhail I |
| description | Maturity onset diabetes of the young (MODY) is a congenital form of diabetes characterized by onset at a young age and a primary defect in pancreatic-β-cell function. Currently, 14 subtypes of MODY are known, and each is associated with mutations in a specific gene:
,
,
,
,
,
,
,
,
,
,
,
,
, and
. The most common subtypes of MODY are associated with mutations in the genes
,
,
, and
. Among them, up to 70% of cases are caused by mutations in
and
. Here, an analysis of 14 MODY genes was performed in 178 patients with a MODY phenotype in Western Siberia. Multiplex ligation-dependent probe amplification analysis of DNA samples from 50 randomly selected patients without detectable mutations did not reveal large rearrangements in the MODY genes. In 38 patients (37% males) among the 178 subjects, mutations were identified in
,
,
, and
. We identified novel potentially causative mutations p.Lys142*, Leu146Val, Ala173Glnfs*30, Val181Asp, Gly261Ala, IVS7 c.864 -1G>T, Cys371*, and Glu443Lys in
and Ser6Arg, IVS 2 c.526 +1 G>T, IVS3 c.713 +2 T>A, and Arg238Lys in
. |
| doi_str_mv | 10.3390/jpm11010057 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7831070</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2480021599</sourcerecordid><originalsourceid>FETCH-LOGICAL-c409t-62721f03a10d661ddcb9723ed6b6fef1630bd1224d5c67093c518d19c6c42a513</originalsourceid><addsrcrecordid>eNpdkUFLHTEUhUNpqWJddV8C3Vhk6k0yk8xsCqLWFny8Qi3FVcgkdzSPN5PXJCP4743VyqvZJHC-nHMvh5D3DD4L0cHRajMyBgygUa_ILgfVVHXN5eut9w7ZT2kF5bQN5xLekh0haqUakLskX94gXczZZB8m-nODNsd5pGGgC5Pn6PMdXU4JMz31pseM6UHK5c9VmKdrerBYnl59qo5TCtabjI6e41QgM4ai_saUMRZb32P0hv4oKTjl9I68Gcw64f7TvUd-fT27PPlWXSzPv58cX1S2hi5XkivOBhCGgZOSOWf7TnGBTvZywIFJAb1jnNeusVJBJ2zDWsc6K23NTcPEHvny6LuZ-xGdLdnRrPUm-tHEOx2M1_8rk7_R1-FWq1YwUFAMDp4MYvgzl2306JPF9dpMGOaked1CyWFdW9CPL9BVmONU1vtLAWdN1xXq8JGyMaQUcXgehoF-KFRvFVroD9vzP7P_6hP36EWbNg</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2480021599</pqid></control><display><type>article</type><title>The Mutation Spectrum of Maturity Onset Diabetes of the Young (MODY)-Associated Genes among Western Siberia Patients</title><source>PubMed Central Open Access</source><source>MDPI - Multidisciplinary Digital Publishing Institute</source><source>EZB-FREE-00999 freely available EZB journals</source><source>PubMed Central</source><creator>Ivanoshchuk, Dinara E ; Shakhtshneider, Elena V ; Rymar, Oksana D ; Ovsyannikova, Alla K ; Mikhailova, Svetlana V ; Fishman, Veniamin S ; Valeev, Emil S ; Orlov, Pavel S ; Voevoda, Mikhail I</creator><creatorcontrib>Ivanoshchuk, Dinara E ; Shakhtshneider, Elena V ; Rymar, Oksana D ; Ovsyannikova, Alla K ; Mikhailova, Svetlana V ; Fishman, Veniamin S ; Valeev, Emil S ; Orlov, Pavel S ; Voevoda, Mikhail I</creatorcontrib><description>Maturity onset diabetes of the young (MODY) is a congenital form of diabetes characterized by onset at a young age and a primary defect in pancreatic-β-cell function. Currently, 14 subtypes of MODY are known, and each is associated with mutations in a specific gene:
,
,
,
,
,
,
,
,
,
,
,
,
, and
. The most common subtypes of MODY are associated with mutations in the genes
,
,
, and
. Among them, up to 70% of cases are caused by mutations in
and
. Here, an analysis of 14 MODY genes was performed in 178 patients with a MODY phenotype in Western Siberia. Multiplex ligation-dependent probe amplification analysis of DNA samples from 50 randomly selected patients without detectable mutations did not reveal large rearrangements in the MODY genes. In 38 patients (37% males) among the 178 subjects, mutations were identified in
,
,
, and
. We identified novel potentially causative mutations p.Lys142*, Leu146Val, Ala173Glnfs*30, Val181Asp, Gly261Ala, IVS7 c.864 -1G>T, Cys371*, and Glu443Lys in
and Ser6Arg, IVS 2 c.526 +1 G>T, IVS3 c.713 +2 T>A, and Arg238Lys in
.</description><identifier>ISSN: 2075-4426</identifier><identifier>EISSN: 2075-4426</identifier><identifier>DOI: 10.3390/jpm11010057</identifier><identifier>PMID: 33477506</identifier><language>eng</language><publisher>Switzerland: MDPI AG</publisher><subject>Antibodies ; Beta cells ; Beta2 protein ; Cellular biology ; Deoxyribonucleic acid ; Diabetes ; Diabetes mellitus ; Disease ; DNA ; Family medical history ; Genes ; Genetics ; Genomes ; Genomics ; Genotype & phenotype ; Glucose ; Hepatocyte nuclear factor 4 ; Hyperglycemia ; Insulin ; Mutation ; Pancreas ; Patients ; Peptides ; Phenotypes ; Precision medicine ; Preventive medicine</subject><ispartof>Journal of personalized medicine, 2021-01, Vol.11 (1), p.57</ispartof><rights>2021. This work is licensed under http://creativecommons.org/licenses/by/3.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>2021 by the authors. 2021</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c409t-62721f03a10d661ddcb9723ed6b6fef1630bd1224d5c67093c518d19c6c42a513</citedby><cites>FETCH-LOGICAL-c409t-62721f03a10d661ddcb9723ed6b6fef1630bd1224d5c67093c518d19c6c42a513</cites><orcidid>0000-0002-0403-545X ; 0000-0001-9425-413X ; 0000-0001-6108-1025</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/PMC7831070/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7831070/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,725,778,782,883,27907,27908,53774,53776</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/33477506$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Ivanoshchuk, Dinara E</creatorcontrib><creatorcontrib>Shakhtshneider, Elena V</creatorcontrib><creatorcontrib>Rymar, Oksana D</creatorcontrib><creatorcontrib>Ovsyannikova, Alla K</creatorcontrib><creatorcontrib>Mikhailova, Svetlana V</creatorcontrib><creatorcontrib>Fishman, Veniamin S</creatorcontrib><creatorcontrib>Valeev, Emil S</creatorcontrib><creatorcontrib>Orlov, Pavel S</creatorcontrib><creatorcontrib>Voevoda, Mikhail I</creatorcontrib><title>The Mutation Spectrum of Maturity Onset Diabetes of the Young (MODY)-Associated Genes among Western Siberia Patients</title><title>Journal of personalized medicine</title><addtitle>J Pers Med</addtitle><description>Maturity onset diabetes of the young (MODY) is a congenital form of diabetes characterized by onset at a young age and a primary defect in pancreatic-β-cell function. Currently, 14 subtypes of MODY are known, and each is associated with mutations in a specific gene:
,
,
,
,
,
,
,
,
,
,
,
,
, and
. The most common subtypes of MODY are associated with mutations in the genes
,
,
, and
. Among them, up to 70% of cases are caused by mutations in
and
. Here, an analysis of 14 MODY genes was performed in 178 patients with a MODY phenotype in Western Siberia. Multiplex ligation-dependent probe amplification analysis of DNA samples from 50 randomly selected patients without detectable mutations did not reveal large rearrangements in the MODY genes. In 38 patients (37% males) among the 178 subjects, mutations were identified in
,
,
, and
. We identified novel potentially causative mutations p.Lys142*, Leu146Val, Ala173Glnfs*30, Val181Asp, Gly261Ala, IVS7 c.864 -1G>T, Cys371*, and Glu443Lys in
and Ser6Arg, IVS 2 c.526 +1 G>T, IVS3 c.713 +2 T>A, and Arg238Lys in
.</description><subject>Antibodies</subject><subject>Beta cells</subject><subject>Beta2 protein</subject><subject>Cellular biology</subject><subject>Deoxyribonucleic acid</subject><subject>Diabetes</subject><subject>Diabetes mellitus</subject><subject>Disease</subject><subject>DNA</subject><subject>Family medical history</subject><subject>Genes</subject><subject>Genetics</subject><subject>Genomes</subject><subject>Genomics</subject><subject>Genotype & phenotype</subject><subject>Glucose</subject><subject>Hepatocyte nuclear factor 4</subject><subject>Hyperglycemia</subject><subject>Insulin</subject><subject>Mutation</subject><subject>Pancreas</subject><subject>Patients</subject><subject>Peptides</subject><subject>Phenotypes</subject><subject>Precision medicine</subject><subject>Preventive medicine</subject><issn>2075-4426</issn><issn>2075-4426</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2021</creationdate><recordtype>article</recordtype><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNpdkUFLHTEUhUNpqWJddV8C3Vhk6k0yk8xsCqLWFny8Qi3FVcgkdzSPN5PXJCP4743VyqvZJHC-nHMvh5D3DD4L0cHRajMyBgygUa_ILgfVVHXN5eut9w7ZT2kF5bQN5xLekh0haqUakLskX94gXczZZB8m-nODNsd5pGGgC5Pn6PMdXU4JMz31pseM6UHK5c9VmKdrerBYnl59qo5TCtabjI6e41QgM4ai_saUMRZb32P0hv4oKTjl9I68Gcw64f7TvUd-fT27PPlWXSzPv58cX1S2hi5XkivOBhCGgZOSOWf7TnGBTvZywIFJAb1jnNeusVJBJ2zDWsc6K23NTcPEHvny6LuZ-xGdLdnRrPUm-tHEOx2M1_8rk7_R1-FWq1YwUFAMDp4MYvgzl2306JPF9dpMGOaked1CyWFdW9CPL9BVmONU1vtLAWdN1xXq8JGyMaQUcXgehoF-KFRvFVroD9vzP7P_6hP36EWbNg</recordid><startdate>20210118</startdate><enddate>20210118</enddate><creator>Ivanoshchuk, Dinara E</creator><creator>Shakhtshneider, Elena V</creator><creator>Rymar, Oksana D</creator><creator>Ovsyannikova, Alla K</creator><creator>Mikhailova, Svetlana V</creator><creator>Fishman, Veniamin S</creator><creator>Valeev, Emil S</creator><creator>Orlov, Pavel S</creator><creator>Voevoda, Mikhail I</creator><general>MDPI AG</general><general>MDPI</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>8FE</scope><scope>8FH</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>LK8</scope><scope>M7P</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>7X8</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0002-0403-545X</orcidid><orcidid>https://orcid.org/0000-0001-9425-413X</orcidid><orcidid>https://orcid.org/0000-0001-6108-1025</orcidid></search><sort><creationdate>20210118</creationdate><title>The Mutation Spectrum of Maturity Onset Diabetes of the Young (MODY)-Associated Genes among Western Siberia Patients</title><author>Ivanoshchuk, Dinara E ; Shakhtshneider, Elena V ; Rymar, Oksana D ; Ovsyannikova, Alla K ; Mikhailova, Svetlana V ; Fishman, Veniamin S ; Valeev, Emil S ; Orlov, Pavel S ; Voevoda, Mikhail I</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c409t-62721f03a10d661ddcb9723ed6b6fef1630bd1224d5c67093c518d19c6c42a513</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2021</creationdate><topic>Antibodies</topic><topic>Beta cells</topic><topic>Beta2 protein</topic><topic>Cellular biology</topic><topic>Deoxyribonucleic acid</topic><topic>Diabetes</topic><topic>Diabetes mellitus</topic><topic>Disease</topic><topic>DNA</topic><topic>Family medical history</topic><topic>Genes</topic><topic>Genetics</topic><topic>Genomes</topic><topic>Genomics</topic><topic>Genotype & phenotype</topic><topic>Glucose</topic><topic>Hepatocyte nuclear factor 4</topic><topic>Hyperglycemia</topic><topic>Insulin</topic><topic>Mutation</topic><topic>Pancreas</topic><topic>Patients</topic><topic>Peptides</topic><topic>Phenotypes</topic><topic>Precision medicine</topic><topic>Preventive medicine</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Ivanoshchuk, Dinara E</creatorcontrib><creatorcontrib>Shakhtshneider, Elena V</creatorcontrib><creatorcontrib>Rymar, Oksana D</creatorcontrib><creatorcontrib>Ovsyannikova, Alla K</creatorcontrib><creatorcontrib>Mikhailova, Svetlana V</creatorcontrib><creatorcontrib>Fishman, Veniamin S</creatorcontrib><creatorcontrib>Valeev, Emil S</creatorcontrib><creatorcontrib>Orlov, Pavel S</creatorcontrib><creatorcontrib>Voevoda, Mikhail I</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Biological Science Collection</collection><collection>Biological Science Database</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>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Journal of personalized medicine</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Ivanoshchuk, Dinara E</au><au>Shakhtshneider, Elena V</au><au>Rymar, Oksana D</au><au>Ovsyannikova, Alla K</au><au>Mikhailova, Svetlana V</au><au>Fishman, Veniamin S</au><au>Valeev, Emil S</au><au>Orlov, Pavel S</au><au>Voevoda, Mikhail I</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>The Mutation Spectrum of Maturity Onset Diabetes of the Young (MODY)-Associated Genes among Western Siberia Patients</atitle><jtitle>Journal of personalized medicine</jtitle><addtitle>J Pers Med</addtitle><date>2021-01-18</date><risdate>2021</risdate><volume>11</volume><issue>1</issue><spage>57</spage><pages>57-</pages><issn>2075-4426</issn><eissn>2075-4426</eissn><abstract>Maturity onset diabetes of the young (MODY) is a congenital form of diabetes characterized by onset at a young age and a primary defect in pancreatic-β-cell function. Currently, 14 subtypes of MODY are known, and each is associated with mutations in a specific gene:
,
,
,
,
,
,
,
,
,
,
,
,
, and
. The most common subtypes of MODY are associated with mutations in the genes
,
,
, and
. Among them, up to 70% of cases are caused by mutations in
and
. Here, an analysis of 14 MODY genes was performed in 178 patients with a MODY phenotype in Western Siberia. Multiplex ligation-dependent probe amplification analysis of DNA samples from 50 randomly selected patients without detectable mutations did not reveal large rearrangements in the MODY genes. In 38 patients (37% males) among the 178 subjects, mutations were identified in
,
,
, and
. We identified novel potentially causative mutations p.Lys142*, Leu146Val, Ala173Glnfs*30, Val181Asp, Gly261Ala, IVS7 c.864 -1G>T, Cys371*, and Glu443Lys in
and Ser6Arg, IVS 2 c.526 +1 G>T, IVS3 c.713 +2 T>A, and Arg238Lys in
.</abstract><cop>Switzerland</cop><pub>MDPI AG</pub><pmid>33477506</pmid><doi>10.3390/jpm11010057</doi><orcidid>https://orcid.org/0000-0002-0403-545X</orcidid><orcidid>https://orcid.org/0000-0001-9425-413X</orcidid><orcidid>https://orcid.org/0000-0001-6108-1025</orcidid><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 2075-4426 |
| ispartof | Journal of personalized medicine, 2021-01, Vol.11 (1), p.57 |
| issn | 2075-4426 2075-4426 |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7831070 |
| source | PubMed Central Open Access; MDPI - Multidisciplinary Digital Publishing Institute; EZB-FREE-00999 freely available EZB journals; PubMed Central |
| subjects | Antibodies Beta cells Beta2 protein Cellular biology Deoxyribonucleic acid Diabetes Diabetes mellitus Disease DNA Family medical history Genes Genetics Genomes Genomics Genotype & phenotype Glucose Hepatocyte nuclear factor 4 Hyperglycemia Insulin Mutation Pancreas Patients Peptides Phenotypes Precision medicine Preventive medicine |
| title | The Mutation Spectrum of Maturity Onset Diabetes of the Young (MODY)-Associated Genes among Western Siberia Patients |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-17T02%3A05%3A07IST&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=The%20Mutation%20Spectrum%20of%20Maturity%20Onset%20Diabetes%20of%20the%20Young%20(MODY)-Associated%20Genes%20among%20Western%20Siberia%20Patients&rft.jtitle=Journal%20of%20personalized%20medicine&rft.au=Ivanoshchuk,%20Dinara%20E&rft.date=2021-01-18&rft.volume=11&rft.issue=1&rft.spage=57&rft.pages=57-&rft.issn=2075-4426&rft.eissn=2075-4426&rft_id=info:doi/10.3390/jpm11010057&rft_dat=%3Cproquest_pubme%3E2480021599%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=2480021599&rft_id=info:pmid/33477506&rfr_iscdi=true |