AustralieFrV1, Main, Exploration, bibRecord, 000782

Monogenic diabetes syndromes: Locus‐specific databases for Alström, Wolfram, and Thiamine‐responsive megaloblastic anemia

Identifieur interne : 000782 ( Main/Exploration ); précédent : 000781; suivant : 000783

Monogenic diabetes syndromes: Locus‐specific databases for Alström, Wolfram, and Thiamine‐responsive megaloblastic anemia

Auteurs : Dewi Astuti ; Ataf Sabir ; Piers Fulton ; Malgorzata Zatyka ; Denise Williams ; Carol Hardy ; Gabriella Milan ; Francesca Favaretto ; Patrick Yu-Wai-Man ; Julia Rohayem ; Miguel L Pez De Heredia ; Tamara Hershey ; Lisbeth Tranebjaerg ; Jian-Hua Chen ; Annabel Chaussenot ; Virginia Nunes ; Bess Marshall ; Susan Mcafferty ; Vallo Tillmann ; Pietro Maffei ; Veronique Paquis-Flucklinger ; Tarekign Geberhiwot ; Wojciech Mlynarski ; Kay Parkinson ; Virginie Picard ; Gema Esteban Bueno ; Renuka Dias ; Amy Arnold ; Caitlin Richens ; Richard Paisey ; Fumihiko Urano ; Robert Semple ; Richard Sinnott ; Timothy G. Barrett

Source :

Human Mutation [ 1059-7794 ] ; 2017.

RBID : PMC:5535005

Abstract

We developed a variant database for diabetes syndrome genes, using the Leiden Open Variation Database platform, containing observed phenotypes matched to the genetic variations. We populated it with 628 published disease‐associated variants (December 2016) for: WFS1 (n = 309), CISD2 (n = 3), ALMS1 (n = 268), and SLC19A2 (n = 48) for Wolfram type 1, Wolfram type 2, Alström, and Thiamine‐responsive megaloblastic anemia syndromes, respectively; and included 23 previously unpublished novel germline variants in WFS1 and 17 variants in ALMS1. We then investigated genotype–phenotype relations for the WFS1 gene. The presence of biallelic loss‐of‐function variants predicted Wolfram syndrome defined by insulin‐dependent diabetes and optic atrophy, with a sensitivity of 79% (95% CI 75%–83%) and specificity of 92% (83%–97%). The presence of minor loss‐of‐function variants in WFS1 predicted isolated diabetes, isolated deafness, or isolated congenital cataracts without development of the full syndrome (sensitivity 100% [93%–100%]; specificity 78% [73%–82%]). The ability to provide a prognostic prediction based on genotype will lead to improvements in patient care and counseling. The development of the database as a repository for monogenic diabetes gene variants will allow prognostic predictions for other diabetes syndromes as next‐generation sequencing expands the repertoire of genotypes and phenotypes. The database is publicly available online at https://lovd.euro-wabb.org.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5535005

DOI: 10.1002/humu.23233
PubMed: 28432734
PubMed Central: 5535005

Affiliations:

Le document en format XML

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<author><name sortKey="Nunes, Virginia" sort="Nunes, Virginia" uniqKey="Nunes V" first="Virginia" last="Nunes">Virginia Nunes</name>
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<author><name sortKey="Marshall, Bess" sort="Marshall, Bess" uniqKey="Marshall B" first="Bess" last="Marshall">Bess Marshall</name>
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<author><name sortKey="Mcafferty, Susan" sort="Mcafferty, Susan" uniqKey="Mcafferty S" first="Susan" last="Mcafferty">Susan Mcafferty</name>
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<author><name sortKey="Paquis Lucklinger, Veronique" sort="Paquis Lucklinger, Veronique" uniqKey="Paquis Lucklinger V" first="Veronique" last="Paquis-Flucklinger">Veronique Paquis-Flucklinger</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Monogenic diabetes syndromes: Locus‐specific databases for Alström, Wolfram, and Thiamine‐responsive megaloblastic anemia</title>
<author><name sortKey="Astuti, Dewi" sort="Astuti, Dewi" uniqKey="Astuti D" first="Dewi" last="Astuti">Dewi Astuti</name>
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<author><name sortKey="Fulton, Piers" sort="Fulton, Piers" uniqKey="Fulton P" first="Piers" last="Fulton">Piers Fulton</name>
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</affiliation>
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<author><name sortKey="Zatyka, Malgorzata" sort="Zatyka, Malgorzata" uniqKey="Zatyka M" first="Malgorzata" last="Zatyka">Malgorzata Zatyka</name>
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<author><name sortKey="Williams, Denise" sort="Williams, Denise" uniqKey="Williams D" first="Denise" last="Williams">Denise Williams</name>
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<author><name sortKey="Hardy, Carol" sort="Hardy, Carol" uniqKey="Hardy C" first="Carol" last="Hardy">Carol Hardy</name>
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<author><name sortKey="Milan, Gabriella" sort="Milan, Gabriella" uniqKey="Milan G" first="Gabriella" last="Milan">Gabriella Milan</name>
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</affiliation>
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<author><name sortKey="Favaretto, Francesca" sort="Favaretto, Francesca" uniqKey="Favaretto F" first="Francesca" last="Favaretto">Francesca Favaretto</name>
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</affiliation>
</author>
<author><name sortKey="Yu Ai An, Patrick" sort="Yu Ai An, Patrick" uniqKey="Yu Ai An P" first="Patrick" last="Yu-Wai-Man">Patrick Yu-Wai-Man</name>
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<affiliation><nlm:aff id="humu23233-aff-0005"></nlm:aff>
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<affiliation><nlm:aff id="humu23233-aff-0006"></nlm:aff>
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<affiliation><nlm:aff id="humu23233-aff-0027"></nlm:aff>
</affiliation>
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<author><name sortKey="Rohayem, Julia" sort="Rohayem, Julia" uniqKey="Rohayem J" first="Julia" last="Rohayem">Julia Rohayem</name>
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</affiliation>
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<author><name sortKey="L Pez De Heredia, Miguel" sort="L Pez De Heredia, Miguel" uniqKey="L Pez De Heredia M" first="Miguel" last="L Pez De Heredia">Miguel L Pez De Heredia</name>
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<author><name sortKey="Hershey, Tamara" sort="Hershey, Tamara" uniqKey="Hershey T" first="Tamara" last="Hershey">Tamara Hershey</name>
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</affiliation>
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<author><name sortKey="Tranebjaerg, Lisbeth" sort="Tranebjaerg, Lisbeth" uniqKey="Tranebjaerg L" first="Lisbeth" last="Tranebjaerg">Lisbeth Tranebjaerg</name>
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</affiliation>
<affiliation><nlm:aff id="humu23233-aff-0012"></nlm:aff>
</affiliation>
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<author><name sortKey="Chen, Jian Ua" sort="Chen, Jian Ua" uniqKey="Chen J" first="Jian-Hua" last="Chen">Jian-Hua Chen</name>
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</affiliation>
</author>
<author><name sortKey="Chaussenot, Annabel" sort="Chaussenot, Annabel" uniqKey="Chaussenot A" first="Annabel" last="Chaussenot">Annabel Chaussenot</name>
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</affiliation>
</author>
<author><name sortKey="Nunes, Virginia" sort="Nunes, Virginia" uniqKey="Nunes V" first="Virginia" last="Nunes">Virginia Nunes</name>
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<affiliation><nlm:aff id="humu23233-aff-0028"></nlm:aff>
</affiliation>
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<author><name sortKey="Marshall, Bess" sort="Marshall, Bess" uniqKey="Marshall B" first="Bess" last="Marshall">Bess Marshall</name>
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</affiliation>
</author>
<author><name sortKey="Mcafferty, Susan" sort="Mcafferty, Susan" uniqKey="Mcafferty S" first="Susan" last="Mcafferty">Susan Mcafferty</name>
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</affiliation>
</author>
<author><name sortKey="Tillmann, Vallo" sort="Tillmann, Vallo" uniqKey="Tillmann V" first="Vallo" last="Tillmann">Vallo Tillmann</name>
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</affiliation>
</author>
<author><name sortKey="Maffei, Pietro" sort="Maffei, Pietro" uniqKey="Maffei P" first="Pietro" last="Maffei">Pietro Maffei</name>
<affiliation><nlm:aff id="humu23233-aff-0003"></nlm:aff>
</affiliation>
</author>
<author><name sortKey="Paquis Lucklinger, Veronique" sort="Paquis Lucklinger, Veronique" uniqKey="Paquis Lucklinger V" first="Veronique" last="Paquis-Flucklinger">Veronique Paquis-Flucklinger</name>
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</affiliation>
</author>
<author><name sortKey="Geberhiwot, Tarekign" sort="Geberhiwot, Tarekign" uniqKey="Geberhiwot T" first="Tarekign" last="Geberhiwot">Tarekign Geberhiwot</name>
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</affiliation>
</author>
<author><name sortKey="Mlynarski, Wojciech" sort="Mlynarski, Wojciech" uniqKey="Mlynarski W" first="Wojciech" last="Mlynarski">Wojciech Mlynarski</name>
<affiliation><nlm:aff id="humu23233-aff-0019"></nlm:aff>
</affiliation>
</author>
<author><name sortKey="Parkinson, Kay" sort="Parkinson, Kay" uniqKey="Parkinson K" first="Kay" last="Parkinson">Kay Parkinson</name>
<affiliation><nlm:aff id="humu23233-aff-0020"></nlm:aff>
</affiliation>
</author>
<author><name sortKey="Picard, Virginie" sort="Picard, Virginie" uniqKey="Picard V" first="Virginie" last="Picard">Virginie Picard</name>
<affiliation><nlm:aff id="humu23233-aff-0021"></nlm:aff>
</affiliation>
</author>
<author><name sortKey="Bueno, Gema Esteban" sort="Bueno, Gema Esteban" uniqKey="Bueno G" first="Gema Esteban" last="Bueno">Gema Esteban Bueno</name>
<affiliation><nlm:aff id="humu23233-aff-0022"></nlm:aff>
</affiliation>
</author>
<author><name sortKey="Dias, Renuka" sort="Dias, Renuka" uniqKey="Dias R" first="Renuka" last="Dias">Renuka Dias</name>
<affiliation><nlm:aff id="humu23233-aff-0023"></nlm:aff>
</affiliation>
</author>
<author><name sortKey="Arnold, Amy" sort="Arnold, Amy" uniqKey="Arnold A" first="Amy" last="Arnold">Amy Arnold</name>
<affiliation><nlm:aff id="humu23233-aff-0023"></nlm:aff>
</affiliation>
</author>
<author><name sortKey="Richens, Caitlin" sort="Richens, Caitlin" uniqKey="Richens C" first="Caitlin" last="Richens">Caitlin Richens</name>
<affiliation><nlm:aff id="humu23233-aff-0023"></nlm:aff>
</affiliation>
</author>
<author><name sortKey="Paisey, Richard" sort="Paisey, Richard" uniqKey="Paisey R" first="Richard" last="Paisey">Richard Paisey</name>
<affiliation><nlm:aff id="humu23233-aff-0024"></nlm:aff>
</affiliation>
</author>
<author><name sortKey="Urano, Fumihiko" sort="Urano, Fumihiko" uniqKey="Urano F" first="Fumihiko" last="Urano">Fumihiko Urano</name>
<affiliation><nlm:aff id="humu23233-aff-0025"></nlm:aff>
</affiliation>
</author>
<author><name sortKey="Semple, Robert" sort="Semple, Robert" uniqKey="Semple R" first="Robert" last="Semple">Robert Semple</name>
<affiliation><nlm:aff id="humu23233-aff-0013"></nlm:aff>
</affiliation>
</author>
<author><name sortKey="Sinnott, Richard" sort="Sinnott, Richard" uniqKey="Sinnott R" first="Richard" last="Sinnott">Richard Sinnott</name>
<affiliation><nlm:aff id="humu23233-aff-0026"></nlm:aff>
</affiliation>
</author>
<author><name sortKey="Barrett, Timothy G" sort="Barrett, Timothy G" uniqKey="Barrett T" first="Timothy G." last="Barrett">Timothy G. Barrett</name>
<affiliation><nlm:aff id="humu23233-aff-0001"></nlm:aff>
</affiliation>
<affiliation><nlm:aff id="humu23233-aff-0023"></nlm:aff>
</affiliation>
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<series><title level="j">Human Mutation</title>
<idno type="ISSN">1059-7794</idno>
<idno type="eISSN">1098-1004</idno>
<imprint><date when="2017">2017</date>
</imprint>
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<front><div type="abstract" xml:lang="en"><title>Abstract</title>
<p>We developed a variant database for diabetes syndrome genes, using the Leiden Open Variation Database platform, containing observed phenotypes matched to the genetic variations. We populated it with 628 published disease‐associated variants (December 2016) for: <italic>WFS1</italic>
 (<italic>n</italic>
 = 309)<italic>, CISD2</italic>
 (<italic>n</italic>
 = 3)<italic>, ALMS1</italic>
 (<italic>n</italic>
 = 268), and <italic>SLC19A2</italic>
 (<italic>n</italic>
 = 48) for Wolfram type 1, Wolfram type 2, Alström, and Thiamine‐responsive megaloblastic anemia syndromes, respectively; and included 23 previously unpublished novel germline variants in <italic>WFS1</italic>
 and 17 variants in <italic>ALMS1</italic>
. We then investigated genotype–phenotype relations for the <italic>WFS1</italic>
 gene. The presence of biallelic loss‐of‐function variants predicted Wolfram syndrome defined by insulin‐dependent diabetes and optic atrophy, with a sensitivity of 79% (95% CI 75%–83%) and specificity of 92% (83%–97%). The presence of minor loss‐of‐function variants in <italic>WFS1</italic>
 predicted isolated diabetes, isolated deafness, or isolated congenital cataracts without development of the full syndrome (sensitivity 100% [93%–100%]; specificity 78% [73%–82%]). The ability to provide a prognostic prediction based on genotype will lead to improvements in patient care and counseling. The development of the database as a repository for monogenic diabetes gene variants will allow prognostic predictions for other diabetes syndromes as next‐generation sequencing expands the repertoire of genotypes and phenotypes. The database is publicly available online at <ext-link ext-link-type="uri" xlink:href="https://lovd.euro-wabb.org">https://lovd.euro-wabb.org</ext-link>
.</p>
</div>
</front>
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<tree><noCountry><name sortKey="Arnold, Amy" sort="Arnold, Amy" uniqKey="Arnold A" first="Amy" last="Arnold">Amy Arnold</name>
<name sortKey="Astuti, Dewi" sort="Astuti, Dewi" uniqKey="Astuti D" first="Dewi" last="Astuti">Dewi Astuti</name>
<name sortKey="Barrett, Timothy G" sort="Barrett, Timothy G" uniqKey="Barrett T" first="Timothy G." last="Barrett">Timothy G. Barrett</name>
<name sortKey="Bueno, Gema Esteban" sort="Bueno, Gema Esteban" uniqKey="Bueno G" first="Gema Esteban" last="Bueno">Gema Esteban Bueno</name>
<name sortKey="Chaussenot, Annabel" sort="Chaussenot, Annabel" uniqKey="Chaussenot A" first="Annabel" last="Chaussenot">Annabel Chaussenot</name>
<name sortKey="Chen, Jian Ua" sort="Chen, Jian Ua" uniqKey="Chen J" first="Jian-Hua" last="Chen">Jian-Hua Chen</name>
<name sortKey="Dias, Renuka" sort="Dias, Renuka" uniqKey="Dias R" first="Renuka" last="Dias">Renuka Dias</name>
<name sortKey="Favaretto, Francesca" sort="Favaretto, Francesca" uniqKey="Favaretto F" first="Francesca" last="Favaretto">Francesca Favaretto</name>
<name sortKey="Fulton, Piers" sort="Fulton, Piers" uniqKey="Fulton P" first="Piers" last="Fulton">Piers Fulton</name>
<name sortKey="Geberhiwot, Tarekign" sort="Geberhiwot, Tarekign" uniqKey="Geberhiwot T" first="Tarekign" last="Geberhiwot">Tarekign Geberhiwot</name>
<name sortKey="Hardy, Carol" sort="Hardy, Carol" uniqKey="Hardy C" first="Carol" last="Hardy">Carol Hardy</name>
<name sortKey="Hershey, Tamara" sort="Hershey, Tamara" uniqKey="Hershey T" first="Tamara" last="Hershey">Tamara Hershey</name>
<name sortKey="L Pez De Heredia, Miguel" sort="L Pez De Heredia, Miguel" uniqKey="L Pez De Heredia M" first="Miguel" last="L Pez De Heredia">Miguel L Pez De Heredia</name>
<name sortKey="Maffei, Pietro" sort="Maffei, Pietro" uniqKey="Maffei P" first="Pietro" last="Maffei">Pietro Maffei</name>
<name sortKey="Marshall, Bess" sort="Marshall, Bess" uniqKey="Marshall B" first="Bess" last="Marshall">Bess Marshall</name>
<name sortKey="Mcafferty, Susan" sort="Mcafferty, Susan" uniqKey="Mcafferty S" first="Susan" last="Mcafferty">Susan Mcafferty</name>
<name sortKey="Milan, Gabriella" sort="Milan, Gabriella" uniqKey="Milan G" first="Gabriella" last="Milan">Gabriella Milan</name>
<name sortKey="Mlynarski, Wojciech" sort="Mlynarski, Wojciech" uniqKey="Mlynarski W" first="Wojciech" last="Mlynarski">Wojciech Mlynarski</name>
<name sortKey="Nunes, Virginia" sort="Nunes, Virginia" uniqKey="Nunes V" first="Virginia" last="Nunes">Virginia Nunes</name>
<name sortKey="Paisey, Richard" sort="Paisey, Richard" uniqKey="Paisey R" first="Richard" last="Paisey">Richard Paisey</name>
<name sortKey="Paquis Lucklinger, Veronique" sort="Paquis Lucklinger, Veronique" uniqKey="Paquis Lucklinger V" first="Veronique" last="Paquis-Flucklinger">Veronique Paquis-Flucklinger</name>
<name sortKey="Parkinson, Kay" sort="Parkinson, Kay" uniqKey="Parkinson K" first="Kay" last="Parkinson">Kay Parkinson</name>
<name sortKey="Picard, Virginie" sort="Picard, Virginie" uniqKey="Picard V" first="Virginie" last="Picard">Virginie Picard</name>
<name sortKey="Richens, Caitlin" sort="Richens, Caitlin" uniqKey="Richens C" first="Caitlin" last="Richens">Caitlin Richens</name>
<name sortKey="Rohayem, Julia" sort="Rohayem, Julia" uniqKey="Rohayem J" first="Julia" last="Rohayem">Julia Rohayem</name>
<name sortKey="Sabir, Ataf" sort="Sabir, Ataf" uniqKey="Sabir A" first="Ataf" last="Sabir">Ataf Sabir</name>
<name sortKey="Semple, Robert" sort="Semple, Robert" uniqKey="Semple R" first="Robert" last="Semple">Robert Semple</name>
<name sortKey="Sinnott, Richard" sort="Sinnott, Richard" uniqKey="Sinnott R" first="Richard" last="Sinnott">Richard Sinnott</name>
<name sortKey="Tillmann, Vallo" sort="Tillmann, Vallo" uniqKey="Tillmann V" first="Vallo" last="Tillmann">Vallo Tillmann</name>
<name sortKey="Tranebjaerg, Lisbeth" sort="Tranebjaerg, Lisbeth" uniqKey="Tranebjaerg L" first="Lisbeth" last="Tranebjaerg">Lisbeth Tranebjaerg</name>
<name sortKey="Urano, Fumihiko" sort="Urano, Fumihiko" uniqKey="Urano F" first="Fumihiko" last="Urano">Fumihiko Urano</name>
<name sortKey="Williams, Denise" sort="Williams, Denise" uniqKey="Williams D" first="Denise" last="Williams">Denise Williams</name>
<name sortKey="Yu Ai An, Patrick" sort="Yu Ai An, Patrick" uniqKey="Yu Ai An P" first="Patrick" last="Yu-Wai-Man">Patrick Yu-Wai-Man</name>
<name sortKey="Zatyka, Malgorzata" sort="Zatyka, Malgorzata" uniqKey="Zatyka M" first="Malgorzata" last="Zatyka">Malgorzata Zatyka</name>
</noCountry>
</tree>
</affiliations>
</record>

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Monogenic diabetes syndromes: Locus‐specific databases for Alström, Wolfram, and Thiamine‐responsive megaloblastic anemia

Monogenic diabetes syndromes: Locus‐specific databases for Alström, Wolfram, and Thiamine‐responsive megaloblastic anemia

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