Detection of a complete autoimmune regulator gene deletion and two additional novel mutations in a cohort of patients with atypical phenotypic variants of autoimmune polyglandular syndrome type 1
ObjectiveAutoimmune polyglandular syndrome type 1 (APS-1) is characterised by multiple autoimmune diseases. Detection of autoimmune regulator (AIRE) gene mutations facilitates timely and precise diagnosis.DesignAIRE mutation detection was performed in a cohort of 11 patients. Two did not meet clinic...
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| Veröffentlicht in: | European journal of endocrinology 2008-11, Vol.159 (5), p.633-639 |
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| creator | Podkrajšek, Katarina Trebušak Milenković, Tatjana Odink, Roelof J Claasen-van der Grinten, Hedi L Bratanič, Nina Hovnik, Tinka Battelino, Tadej |
| description | ObjectiveAutoimmune polyglandular syndrome type 1 (APS-1) is characterised by multiple autoimmune diseases. Detection of autoimmune regulator (AIRE) gene mutations facilitates timely and precise diagnosis.DesignAIRE mutation detection was performed in a cohort of 11 patients. Two did not meet clinical APS-1 criteria and several started with atypical presentation.MethodsSequencing and TaqMan genotyping were used to identify AIRE mutations. Complete AIRE deletion was confirmed and framed by real-time PCR, long-range amplification and analysis of the microsatellite markers.ResultsSeven different mutations were detected, three were novel: c.892G>A in exon 8, silent mutation c.462A>T in exon 3 most likely affecting splicing, and a complete deletion of a single AIRE allele ((?_68)_(1567-14_?)del). Novel (chronic otitis) and rare (systemic juvenile rheumatoid arthritis, autoimmune bronchiolitis, epilepsy) clinical presentations were observed.ConclusionsAIRE mutation detection was valuable in the diagnostics of APS-1 in patients with atypical presentation. Chronic otitis media possibly broadened the cluster of APS-1 manifestations. |
| doi_str_mv | 10.1530/EJE-08-0328 |
| format | Article |
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Detection of autoimmune regulator (AIRE) gene mutations facilitates timely and precise diagnosis.DesignAIRE mutation detection was performed in a cohort of 11 patients. Two did not meet clinical APS-1 criteria and several started with atypical presentation.MethodsSequencing and TaqMan genotyping were used to identify AIRE mutations. Complete AIRE deletion was confirmed and framed by real-time PCR, long-range amplification and analysis of the microsatellite markers.ResultsSeven different mutations were detected, three were novel: c.892G>A in exon 8, silent mutation c.462A>T in exon 3 most likely affecting splicing, and a complete deletion of a single AIRE allele ((?_68)_(1567-14_?)del). Novel (chronic otitis) and rare (systemic juvenile rheumatoid arthritis, autoimmune bronchiolitis, epilepsy) clinical presentations were observed.ConclusionsAIRE mutation detection was valuable in the diagnostics of APS-1 in patients with atypical presentation. Chronic otitis media possibly broadened the cluster of APS-1 manifestations.</description><identifier>ISSN: 0804-4643</identifier><identifier>EISSN: 1479-683X</identifier><identifier>DOI: 10.1530/EJE-08-0328</identifier><identifier>PMID: 18682433</identifier><language>eng</language><publisher>Bristol: BioScientifica</publisher><subject>Adolescent ; Adult ; AIRE Protein ; Biological and medical sciences ; Child ; Clinical Study ; Cohort Studies ; DNA Mutational Analysis ; Endocrinopathies ; Female ; Fundamental and applied biological sciences. Psychology ; Gene Deletion ; Genetic Testing ; Heterozygote ; Humans ; Male ; Medical sciences ; Microsatellite Repeats ; Miscellaneous ; Phenotype ; Point Mutation ; Polyendocrinopathies, Autoimmune - diagnosis ; Polyendocrinopathies, Autoimmune - genetics ; Promoter Regions, Genetic - genetics ; Public health. Hygiene ; Public health. Hygiene-occupational medicine ; Transcription Factors - genetics ; Vertebrates: endocrinology</subject><ispartof>European journal of endocrinology, 2008-11, Vol.159 (5), p.633-639</ispartof><rights>2008 European Society of Endocrinology</rights><rights>2009 INIST-CNRS</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b467t-ed34888d7cbdd37ef66a8de547f543412c0e111dffc46cbe9cdd3a36969bb3053</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=20876890$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/18682433$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Podkrajšek, Katarina Trebušak</creatorcontrib><creatorcontrib>Milenković, Tatjana</creatorcontrib><creatorcontrib>Odink, Roelof J</creatorcontrib><creatorcontrib>Claasen-van der Grinten, Hedi L</creatorcontrib><creatorcontrib>Bratanič, Nina</creatorcontrib><creatorcontrib>Hovnik, Tinka</creatorcontrib><creatorcontrib>Battelino, Tadej</creatorcontrib><title>Detection of a complete autoimmune regulator gene deletion and two additional novel mutations in a cohort of patients with atypical phenotypic variants of autoimmune polyglandular syndrome type 1</title><title>European journal of endocrinology</title><addtitle>Eur J Endocrinol</addtitle><description>ObjectiveAutoimmune polyglandular syndrome type 1 (APS-1) is characterised by multiple autoimmune diseases. Detection of autoimmune regulator (AIRE) gene mutations facilitates timely and precise diagnosis.DesignAIRE mutation detection was performed in a cohort of 11 patients. Two did not meet clinical APS-1 criteria and several started with atypical presentation.MethodsSequencing and TaqMan genotyping were used to identify AIRE mutations. Complete AIRE deletion was confirmed and framed by real-time PCR, long-range amplification and analysis of the microsatellite markers.ResultsSeven different mutations were detected, three were novel: c.892G>A in exon 8, silent mutation c.462A>T in exon 3 most likely affecting splicing, and a complete deletion of a single AIRE allele ((?_68)_(1567-14_?)del). Novel (chronic otitis) and rare (systemic juvenile rheumatoid arthritis, autoimmune bronchiolitis, epilepsy) clinical presentations were observed.ConclusionsAIRE mutation detection was valuable in the diagnostics of APS-1 in patients with atypical presentation. Chronic otitis media possibly broadened the cluster of APS-1 manifestations.</description><subject>Adolescent</subject><subject>Adult</subject><subject>AIRE Protein</subject><subject>Biological and medical sciences</subject><subject>Child</subject><subject>Clinical Study</subject><subject>Cohort Studies</subject><subject>DNA Mutational Analysis</subject><subject>Endocrinopathies</subject><subject>Female</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Gene Deletion</subject><subject>Genetic Testing</subject><subject>Heterozygote</subject><subject>Humans</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Microsatellite Repeats</subject><subject>Miscellaneous</subject><subject>Phenotype</subject><subject>Point Mutation</subject><subject>Polyendocrinopathies, Autoimmune - diagnosis</subject><subject>Polyendocrinopathies, Autoimmune - genetics</subject><subject>Promoter Regions, Genetic - genetics</subject><subject>Public health. Hygiene</subject><subject>Public health. Hygiene-occupational medicine</subject><subject>Transcription Factors - genetics</subject><subject>Vertebrates: endocrinology</subject><issn>0804-4643</issn><issn>1479-683X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2008</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kU9v3CAQxVHVqNmmPfVecekpcgsLi_GxSrb_FCmXROrNwjDsUtlgAU60ny9frJBdNbeeYJ5-M_P0BqEPlHymG0a-bH9tGyIbwtbyFVpR3naNkOz3a7QikvCGC87O0duU_hBCy5-8QedUCrnmjK3Q0zVk0NkFj4PFCuswzWORsFpycNO0eMARdsuocoh4B6U0UIDaoLzB-TFgZYyrghqxDw8w4mnJqgoJO_88cx9irvPnIoPPCT-6vMcqH2anS9e8Bx-eC_ygolOVqG5eLMxhPOzGsrAYiTgdvIlhAlx6ANN36MyqMcH703uB7r9t765-NDe3339efb1pBi7a3IBhXEppWj0Yw1qwQihpYMNbu-GM07UmQCk11mou9ACdLphiohPdMDCyYRfo8jhXx5BSBNvP0U0qHnpK-nqKvpyiJ7Kvpyj0xyM9L8ME5oU9ZV-ATydApZKCjcprl_5xayJbITtSOHrkBheSrvk5W2L77_K_6R2oPg</recordid><startdate>20081101</startdate><enddate>20081101</enddate><creator>Podkrajšek, Katarina Trebušak</creator><creator>Milenković, Tatjana</creator><creator>Odink, Roelof J</creator><creator>Claasen-van der Grinten, Hedi L</creator><creator>Bratanič, Nina</creator><creator>Hovnik, Tinka</creator><creator>Battelino, Tadej</creator><general>BioScientifica</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope></search><sort><creationdate>20081101</creationdate><title>Detection of a complete autoimmune regulator gene deletion and two additional novel mutations in a cohort of patients with atypical phenotypic variants of autoimmune polyglandular syndrome type 1</title><author>Podkrajšek, Katarina Trebušak ; Milenković, Tatjana ; Odink, Roelof J ; Claasen-van der Grinten, Hedi L ; Bratanič, Nina ; Hovnik, Tinka ; Battelino, Tadej</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b467t-ed34888d7cbdd37ef66a8de547f543412c0e111dffc46cbe9cdd3a36969bb3053</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2008</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>AIRE Protein</topic><topic>Biological and medical sciences</topic><topic>Child</topic><topic>Clinical Study</topic><topic>Cohort Studies</topic><topic>DNA Mutational Analysis</topic><topic>Endocrinopathies</topic><topic>Female</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Gene Deletion</topic><topic>Genetic Testing</topic><topic>Heterozygote</topic><topic>Humans</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Microsatellite Repeats</topic><topic>Miscellaneous</topic><topic>Phenotype</topic><topic>Point Mutation</topic><topic>Polyendocrinopathies, Autoimmune - diagnosis</topic><topic>Polyendocrinopathies, Autoimmune - genetics</topic><topic>Promoter Regions, Genetic - genetics</topic><topic>Public health. Hygiene</topic><topic>Public health. Hygiene-occupational medicine</topic><topic>Transcription Factors - genetics</topic><topic>Vertebrates: endocrinology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Podkrajšek, Katarina Trebušak</creatorcontrib><creatorcontrib>Milenković, Tatjana</creatorcontrib><creatorcontrib>Odink, Roelof J</creatorcontrib><creatorcontrib>Claasen-van der Grinten, Hedi L</creatorcontrib><creatorcontrib>Bratanič, Nina</creatorcontrib><creatorcontrib>Hovnik, Tinka</creatorcontrib><creatorcontrib>Battelino, Tadej</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><jtitle>European journal of endocrinology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Podkrajšek, Katarina Trebušak</au><au>Milenković, Tatjana</au><au>Odink, Roelof J</au><au>Claasen-van der Grinten, Hedi L</au><au>Bratanič, Nina</au><au>Hovnik, Tinka</au><au>Battelino, Tadej</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Detection of a complete autoimmune regulator gene deletion and two additional novel mutations in a cohort of patients with atypical phenotypic variants of autoimmune polyglandular syndrome type 1</atitle><jtitle>European journal of endocrinology</jtitle><addtitle>Eur J Endocrinol</addtitle><date>2008-11-01</date><risdate>2008</risdate><volume>159</volume><issue>5</issue><spage>633</spage><epage>639</epage><pages>633-639</pages><issn>0804-4643</issn><eissn>1479-683X</eissn><abstract>ObjectiveAutoimmune polyglandular syndrome type 1 (APS-1) is characterised by multiple autoimmune diseases. Detection of autoimmune regulator (AIRE) gene mutations facilitates timely and precise diagnosis.DesignAIRE mutation detection was performed in a cohort of 11 patients. Two did not meet clinical APS-1 criteria and several started with atypical presentation.MethodsSequencing and TaqMan genotyping were used to identify AIRE mutations. Complete AIRE deletion was confirmed and framed by real-time PCR, long-range amplification and analysis of the microsatellite markers.ResultsSeven different mutations were detected, three were novel: c.892G>A in exon 8, silent mutation c.462A>T in exon 3 most likely affecting splicing, and a complete deletion of a single AIRE allele ((?_68)_(1567-14_?)del). Novel (chronic otitis) and rare (systemic juvenile rheumatoid arthritis, autoimmune bronchiolitis, epilepsy) clinical presentations were observed.ConclusionsAIRE mutation detection was valuable in the diagnostics of APS-1 in patients with atypical presentation. Chronic otitis media possibly broadened the cluster of APS-1 manifestations.</abstract><cop>Bristol</cop><pub>BioScientifica</pub><pmid>18682433</pmid><doi>10.1530/EJE-08-0328</doi><tpages>7</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Adolescent Adult AIRE Protein Biological and medical sciences Child Clinical Study Cohort Studies DNA Mutational Analysis Endocrinopathies Female Fundamental and applied biological sciences. Psychology Gene Deletion Genetic Testing Heterozygote Humans Male Medical sciences Microsatellite Repeats Miscellaneous Phenotype Point Mutation Polyendocrinopathies, Autoimmune - diagnosis Polyendocrinopathies, Autoimmune - genetics Promoter Regions, Genetic - genetics Public health. Hygiene Public health. Hygiene-occupational medicine Transcription Factors - genetics Vertebrates: endocrinology |
| title | Detection of a complete autoimmune regulator gene deletion and two additional novel mutations in a cohort of patients with atypical phenotypic variants of autoimmune polyglandular syndrome type 1 |
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