Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.
Identifieur interne : 000778 ( PubMed/Checkpoint ); précédent : 000777; suivant : 000779Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.
Auteurs : Dewi Astuti [Royaume-Uni] ; Ataf Sabir [Royaume-Uni] ; Piers Fulton [Royaume-Uni] ; Malgorzata Zatyka [Royaume-Uni] ; Denise Williams [Royaume-Uni] ; Carol Hardy [Royaume-Uni] ; Gabriella Milan [Italie] ; Francesca Favaretto [Italie] ; Patrick Yu-Wai-Man [Royaume-Uni] ; Julia Rohayem [Allemagne] ; Miguel L Pez De Heredia [Espagne] ; Tamara Hershey [États-Unis] ; Lisbeth Tranebjaerg [Danemark] ; Jian-Hua Chen [Royaume-Uni] ; Annabel Chaussenot [France] ; Virginia Nunes [Espagne] ; Bess Marshall [États-Unis] ; Susan Mcafferty [Royaume-Uni] ; Vallo Tillmann [Estonie] ; Pietro Maffei [Italie] ; Veronique Paquis-Flucklinger [France] ; Tarekign Geberhiwot [Royaume-Uni] ; Wojciech Mlynarski [Pologne] ; Kay Parkinson [Royaume-Uni] ; Virginie Picard [France] ; Gema Esteban Bueno [Espagne] ; Renuka Dias [Royaume-Uni] ; Amy Arnold [Royaume-Uni] ; Caitlin Richens [Royaume-Uni] ; Richard Paisey [Royaume-Uni] ; Fumihiko Urano [États-Unis] ; Robert Semple [Royaume-Uni] ; Richard Sinnott [Australie] ; Timothy G. Barrett [Royaume-Uni]Source :
- Human mutation [ 1098-1004 ] ; 2017.
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type 2, Alström, and Thiamine-responsive megaloblastic anemia syndromes, respectively; and included 23 previously unpublished novel germline variants in WFS1 and 17 variants in ALMS1.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.
DOI: 10.1002/humu.23233
PubMed: 28432734
Affiliations:
- Allemagne, Australie, Danemark, Espagne, Estonie, France, Italie, Pologne, Royaume-Uni, États-Unis
- Angleterre, Catalogne, District de Münster, Midlands de l'Ouest, Missouri (État), Provence-Alpes-Côte d'Azur, Rhénanie-du-Nord-Westphalie, Victoria (État), Écosse
- Barcelone, Birmingham, Glasgow, Melbourne, Münster, Nice
- Université de Birmingham, Université de Glasgow, Université de Melbourne
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Radiology, Washington University School of Medicine, St. Louis, Missouri.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Missouri (État)</region></placeName><wicri:cityArea>Departments of Psychiatry, Neurology and Radiology, Washington University School of Medicine, St. Louis</wicri:cityArea></affiliation></author><author><name sortKey="Tranebjaerg, Lisbeth" sort="Tranebjaerg, Lisbeth" uniqKey="Tranebjaerg L" first="Lisbeth" last="Tranebjaerg">Lisbeth Tranebjaerg</name><affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Genetics, University Hospital/The Kennedy Centre, Glostrup, Denmark.</nlm:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>Department of Clinical Genetics, University Hospital/The Kennedy Centre, Glostrup</wicri:regionArea><wicri:noRegion>Glostrup</wicri:noRegion></affiliation></author><author><name sortKey="Chen, Jian Hua" sort="Chen, Jian Hua" uniqKey="Chen J" first="Jian-Hua" 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Sophia-Antipolis University, Nice</wicri:regionArea><placeName><region type="region">Provence-Alpes-Côte d'Azur</region><region type="old region">Provence-Alpes-Côte d'Azur</region><settlement type="city">Nice</settlement></placeName></affiliation></author><author><name sortKey="Nunes, Virginia" sort="Nunes, Virginia" uniqKey="Nunes V" first="Virginia" last="Nunes">Virginia Nunes</name><affiliation wicri:level="3"><nlm:affiliation>IDIBELL, Hospital Duran i Reynals, 3ª Planta, Gran Via de L'Hospitalet, 199, E-08908- L'Hospitalet de Llobregat, Barcelona, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>IDIBELL, Hospital Duran i Reynals, 3ª Planta, Gran Via de L'Hospitalet, 199, E-08908- L'Hospitalet de Llobregat, Barcelona</wicri:regionArea><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Marshall, Bess" sort="Marshall, Bess" uniqKey="Marshall B" first="Bess" last="Marshall">Bess Marshall</name><affiliation wicri:level="2"><nlm:affiliation>Department of Pediatrics, Washington University School of Medicine, One Children's Place, St. Louis, Missouri.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Missouri (État)</region></placeName><wicri:cityArea>Department of Pediatrics, Washington University School of Medicine, One Children's Place, St. Louis</wicri:cityArea></affiliation></author><author><name sortKey="Mcafferty, Susan" sort="Mcafferty, Susan" uniqKey="Mcafferty S" first="Susan" last="Mcafferty">Susan Mcafferty</name><affiliation wicri:level="4"><nlm:affiliation>IT Services, University of Glasgow, Glasgow, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>IT Services, University of Glasgow, Glasgow</wicri:regionArea><orgName type="university">Université de Glasgow</orgName><placeName><settlement type="city">Glasgow</settlement><region type="country">Écosse</region></placeName></affiliation></author><author><name sortKey="Tillmann, Vallo" sort="Tillmann, Vallo" uniqKey="Tillmann V" first="Vallo" last="Tillmann">Vallo Tillmann</name><affiliation wicri:level="1"><nlm:affiliation>Tartu University Children's Hospital, Tartu, Estonia.</nlm:affiliation><country xml:lang="fr">Estonie</country><wicri:regionArea>Tartu University Children's Hospital, Tartu</wicri:regionArea><wicri:noRegion>Tartu</wicri:noRegion></affiliation></author><author><name sortKey="Maffei, Pietro" sort="Maffei, Pietro" uniqKey="Maffei P" first="Pietro" last="Maffei">Pietro Maffei</name><affiliation wicri:level="1"><nlm:affiliation>Department of Medicine (DIMED), University of Padua, Padua, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Medicine (DIMED), University of Padua, Padua</wicri:regionArea><wicri:noRegion>Padua</wicri:noRegion></affiliation></author><author><name sortKey="Paquis Flucklinger, Veronique" sort="Paquis Flucklinger, Veronique" uniqKey="Paquis Flucklinger V" first="Veronique" last="Paquis-Flucklinger">Veronique Paquis-Flucklinger</name><affiliation wicri:level="3"><nlm:affiliation>School of Medicine, IRCAN, UMR CNRS 7284/INSERM U1081/UNS, Nice Sophia-Antipolis University, Nice, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>School of Medicine, IRCAN, UMR CNRS 7284/INSERM U1081/UNS, Nice Sophia-Antipolis University, Nice</wicri:regionArea><placeName><region type="region">Provence-Alpes-Côte d'Azur</region><region type="old region">Provence-Alpes-Côte d'Azur</region><settlement type="city">Nice</settlement></placeName></affiliation></author><author><name sortKey="Geberhiwot, Tarekign" sort="Geberhiwot, Tarekign" uniqKey="Geberhiwot T" first="Tarekign" last="Geberhiwot">Tarekign Geberhiwot</name><affiliation wicri:level="3"><nlm:affiliation>Department of Metabolism, University Hospitals Birmingham NHS Foundation Trust, Queen Elizabeth Hospital, Queen Elizabeth Medical Centre, Birmingham, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Metabolism, University Hospitals Birmingham NHS Foundation Trust, Queen Elizabeth Hospital, Queen Elizabeth Medical Centre, Birmingham</wicri:regionArea><placeName><settlement type="city">Birmingham</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Midlands de l'Ouest</region></placeName></affiliation></author><author><name sortKey="Mlynarski, Wojciech" sort="Mlynarski, Wojciech" uniqKey="Mlynarski W" first="Wojciech" last="Mlynarski">Wojciech Mlynarski</name><affiliation wicri:level="1"><nlm:affiliation>Department of Paediatrics, Medical University of Lodz, Lodz, Poland.</nlm:affiliation><country xml:lang="fr">Pologne</country><wicri:regionArea>Department of Paediatrics, Medical University of Lodz, Lodz</wicri:regionArea><wicri:noRegion>Lodz</wicri:noRegion></affiliation></author><author><name sortKey="Parkinson, Kay" sort="Parkinson, Kay" uniqKey="Parkinson K" first="Kay" last="Parkinson">Kay Parkinson</name><affiliation wicri:level="1"><nlm:affiliation>Alström Syndrome Europe, Woodpecker Cottage, Paignton, S. Devon, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Alström Syndrome Europe, Woodpecker Cottage, Paignton, S. Devon</wicri:regionArea><wicri:noRegion>S. Devon</wicri:noRegion></affiliation></author><author><name sortKey="Picard, Virginie" sort="Picard, Virginie" uniqKey="Picard V" first="Virginie" last="Picard">Virginie Picard</name><affiliation wicri:level="1"><nlm:affiliation>Association syndrome de Wolfram, Residence Gauguin, Grand-Champ, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Association syndrome de Wolfram, Residence Gauguin, Grand-Champ</wicri:regionArea><wicri:noRegion>Grand-Champ</wicri:noRegion><wicri:noRegion>Grand-Champ</wicri:noRegion></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 wicri:level="1"><nlm:affiliation>Unidad de Géstion Clínica de Garrucha, Área de Gestión Sanitaria Norte de Almería, Avd. Dra. Parra, Almería, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Unidad de Géstion Clínica de Garrucha, Área de Gestión Sanitaria Norte de Almería, Avd. Dra. Parra, Almería</wicri:regionArea><wicri:noRegion>Almería</wicri:noRegion></affiliation></author><author><name sortKey="Dias, Renuka" sort="Dias, Renuka" uniqKey="Dias R" first="Renuka" last="Dias">Renuka Dias</name><affiliation wicri:level="3"><nlm:affiliation>Birmingham Women's and Children's Hospital, Birmingham, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Birmingham Women's and Children's Hospital, Birmingham</wicri:regionArea><placeName><settlement type="city">Birmingham</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Midlands de l'Ouest</region></placeName></affiliation></author><author><name sortKey="Arnold, Amy" sort="Arnold, Amy" uniqKey="Arnold A" first="Amy" last="Arnold">Amy Arnold</name><affiliation wicri:level="3"><nlm:affiliation>Birmingham Women's and Children's Hospital, Birmingham, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Birmingham Women's and Children's Hospital, Birmingham</wicri:regionArea><placeName><settlement type="city">Birmingham</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Midlands de l'Ouest</region></placeName></affiliation></author><author><name sortKey="Richens, Caitlin" sort="Richens, Caitlin" uniqKey="Richens C" first="Caitlin" last="Richens">Caitlin Richens</name><affiliation wicri:level="3"><nlm:affiliation>Birmingham Women's and Children's Hospital, Birmingham, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Birmingham Women's and Children's Hospital, Birmingham</wicri:regionArea><placeName><settlement type="city">Birmingham</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Midlands de l'Ouest</region></placeName></affiliation></author><author><name sortKey="Paisey, Richard" sort="Paisey, Richard" uniqKey="Paisey R" first="Richard" last="Paisey">Richard Paisey</name><affiliation wicri:level="1"><nlm:affiliation>Diabetes Research Unit, Horizon Centre, Torbay Hospital NHS Foundation Trust, Devon, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Diabetes Research Unit, Horizon Centre, Torbay Hospital NHS Foundation Trust, Devon</wicri:regionArea><wicri:noRegion>Devon</wicri:noRegion></affiliation></author><author><name sortKey="Urano, Fumihiko" sort="Urano, Fumihiko" uniqKey="Urano F" first="Fumihiko" last="Urano">Fumihiko Urano</name><affiliation wicri:level="2"><nlm:affiliation>Department of Medicine, Division of Endocrinology, Metabolism, and Lipid Research, Washington University School of Medicine, St. Louis, Missouri.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Missouri (État)</region></placeName><wicri:cityArea>Department of Medicine, Division of Endocrinology, Metabolism, and Lipid Research, Washington University School of Medicine, St. Louis</wicri:cityArea></affiliation></author><author><name sortKey="Semple, Robert" sort="Semple, Robert" uniqKey="Semple R" first="Robert" last="Semple">Robert Semple</name><affiliation wicri:level="1"><nlm:affiliation>University of Cambridge Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, Box 289, Addenbrooke's Hospital, Cambridge, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>University of Cambridge Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, Box 289, Addenbrooke's Hospital, Cambridge</wicri:regionArea><wicri:noRegion>Cambridge</wicri:noRegion></affiliation></author><author><name sortKey="Sinnott, Richard" sort="Sinnott, Richard" uniqKey="Sinnott R" first="Richard" last="Sinnott">Richard Sinnott</name><affiliation wicri:level="4"><nlm:affiliation>Department of information and computing systems, The University of Melbourne, Parkville, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Department of information and computing systems, The University of Melbourne, Parkville</wicri:regionArea><orgName type="university">Université de Melbourne</orgName><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></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 wicri:level="4"><nlm:affiliation>Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Edgbaston, Birmingham, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Edgbaston, Birmingham</wicri:regionArea><placeName><settlement type="city">Birmingham</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Midlands de l'Ouest</region><settlement type="city">Birmingham</settlement></placeName><orgName type="university">Université de Birmingham</orgName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2017">2017</date><idno type="RBID">pubmed:28432734</idno><idno type="pmid">28432734</idno><idno type="doi">10.1002/humu.23233</idno><idno type="wicri:Area/PubMed/Corpus">000990</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000990</idno><idno type="wicri:Area/PubMed/Curation">000987</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">000987</idno><idno type="wicri:Area/PubMed/Checkpoint">000987</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">000987</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">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><affiliation wicri:level="4"><nlm:affiliation>Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Edgbaston, Birmingham, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Edgbaston, Birmingham</wicri:regionArea><placeName><settlement type="city">Birmingham</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Midlands de l'Ouest</region><settlement type="city">Birmingham</settlement></placeName><orgName type="university">Université de Birmingham</orgName></affiliation></author><author><name sortKey="Sabir, Ataf" sort="Sabir, Ataf" uniqKey="Sabir A" first="Ataf" last="Sabir">Ataf Sabir</name><affiliation wicri:level="3"><nlm:affiliation>West Midlands Regional Genetics Service, Birmingham Women's and Children's Hospital, Edgbaston, Birmingham, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>West Midlands Regional Genetics Service, Birmingham Women's and Children's Hospital, Edgbaston, Birmingham</wicri:regionArea><placeName><settlement type="city">Birmingham</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Midlands de l'Ouest</region></placeName></affiliation></author><author><name sortKey="Fulton, Piers" sort="Fulton, Piers" uniqKey="Fulton P" first="Piers" last="Fulton">Piers Fulton</name><affiliation wicri:level="3"><nlm:affiliation>West Midlands Regional Genetics Service, Birmingham Women's and Children's Hospital, Edgbaston, Birmingham, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>West Midlands Regional Genetics Service, Birmingham Women's and Children's Hospital, Edgbaston, Birmingham</wicri:regionArea><placeName><settlement type="city">Birmingham</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Midlands de l'Ouest</region></placeName></affiliation></author><author><name sortKey="Zatyka, Malgorzata" sort="Zatyka, Malgorzata" uniqKey="Zatyka M" first="Malgorzata" last="Zatyka">Malgorzata Zatyka</name><affiliation wicri:level="4"><nlm:affiliation>Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Edgbaston, Birmingham, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Edgbaston, Birmingham</wicri:regionArea><placeName><settlement type="city">Birmingham</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Midlands de l'Ouest</region><settlement type="city">Birmingham</settlement></placeName><orgName type="university">Université de Birmingham</orgName></affiliation></author><author><name sortKey="Williams, Denise" sort="Williams, Denise" uniqKey="Williams D" first="Denise" last="Williams">Denise Williams</name><affiliation wicri:level="3"><nlm:affiliation>West Midlands Regional Genetics Service, Birmingham Women's and Children's Hospital, Edgbaston, Birmingham, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>West Midlands Regional Genetics Service, Birmingham Women's and Children's Hospital, Edgbaston, Birmingham</wicri:regionArea><placeName><settlement type="city">Birmingham</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Midlands de l'Ouest</region></placeName></affiliation></author><author><name sortKey="Hardy, Carol" sort="Hardy, Carol" uniqKey="Hardy C" first="Carol" last="Hardy">Carol Hardy</name><affiliation wicri:level="3"><nlm:affiliation>West Midlands Regional Genetics Service, Birmingham Women's and Children's Hospital, Edgbaston, Birmingham, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>West Midlands Regional Genetics Service, Birmingham Women's and Children's Hospital, Edgbaston, Birmingham</wicri:regionArea><placeName><settlement type="city">Birmingham</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Midlands de l'Ouest</region></placeName></affiliation></author><author><name sortKey="Milan, Gabriella" sort="Milan, Gabriella" uniqKey="Milan G" first="Gabriella" last="Milan">Gabriella Milan</name><affiliation wicri:level="1"><nlm:affiliation>Department of Medicine (DIMED), University of Padua, Padua, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Medicine (DIMED), University of Padua, Padua</wicri:regionArea><wicri:noRegion>Padua</wicri:noRegion></affiliation></author><author><name sortKey="Favaretto, Francesca" sort="Favaretto, Francesca" uniqKey="Favaretto F" first="Francesca" last="Favaretto">Francesca Favaretto</name><affiliation wicri:level="1"><nlm:affiliation>Department of Medicine (DIMED), University of Padua, Padua, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Medicine (DIMED), University of Padua, Padua</wicri:regionArea><wicri:noRegion>Padua</wicri:noRegion></affiliation></author><author><name sortKey="Yu Wai Man, Patrick" sort="Yu Wai Man, Patrick" uniqKey="Yu Wai Man P" first="Patrick" last="Yu-Wai-Man">Patrick Yu-Wai-Man</name><affiliation wicri:level="1"><nlm:affiliation>Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne</wicri:regionArea><wicri:noRegion>Newcastle upon Tyne</wicri:noRegion></affiliation></author><author><name sortKey="Rohayem, Julia" sort="Rohayem, Julia" uniqKey="Rohayem J" first="Julia" last="Rohayem">Julia Rohayem</name><affiliation wicri:level="3"><nlm:affiliation>Centrum für Reproduktionsmedizin und Andrologie, WHO Kollaborationszentrum, EAA, Ausbildungszentrum, Universitätsklinikum Münster, Münster, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Centrum für Reproduktionsmedizin und Andrologie, WHO Kollaborationszentrum, EAA, Ausbildungszentrum, Universitätsklinikum Münster, Münster</wicri:regionArea><placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region><region type="district" nuts="2">District de Münster</region><settlement type="city">Münster</settlement></placeName></affiliation></author><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><affiliation wicri:level="3"><nlm:affiliation>IDIBELL, Hospital Duran i Reynals, 3ª Planta, Gran Via de L'Hospitalet, 199, E-08908- L'Hospitalet de Llobregat, Barcelona, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>IDIBELL, Hospital Duran i Reynals, 3ª Planta, Gran Via de L'Hospitalet, 199, E-08908- L'Hospitalet de Llobregat, Barcelona</wicri:regionArea><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Hershey, Tamara" sort="Hershey, Tamara" uniqKey="Hershey T" first="Tamara" last="Hershey">Tamara Hershey</name><affiliation wicri:level="2"><nlm:affiliation>Departments of Psychiatry, Neurology and Radiology, Washington University School of Medicine, St. Louis, Missouri.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Missouri (État)</region></placeName><wicri:cityArea>Departments of Psychiatry, Neurology and Radiology, Washington University School of Medicine, St. Louis</wicri:cityArea></affiliation></author><author><name sortKey="Tranebjaerg, Lisbeth" sort="Tranebjaerg, Lisbeth" uniqKey="Tranebjaerg L" first="Lisbeth" last="Tranebjaerg">Lisbeth Tranebjaerg</name><affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Genetics, University Hospital/The Kennedy Centre, Glostrup, Denmark.</nlm:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>Department of Clinical Genetics, University Hospital/The Kennedy Centre, Glostrup</wicri:regionArea><wicri:noRegion>Glostrup</wicri:noRegion></affiliation></author><author><name sortKey="Chen, Jian Hua" sort="Chen, Jian Hua" uniqKey="Chen J" first="Jian-Hua" last="Chen">Jian-Hua Chen</name><affiliation wicri:level="1"><nlm:affiliation>University of Cambridge Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, Box 289, Addenbrooke's Hospital, Cambridge, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>University of Cambridge Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, Box 289, Addenbrooke's Hospital, Cambridge</wicri:regionArea><wicri:noRegion>Cambridge</wicri:noRegion></affiliation></author><author><name sortKey="Chaussenot, Annabel" sort="Chaussenot, Annabel" uniqKey="Chaussenot A" first="Annabel" last="Chaussenot">Annabel Chaussenot</name><affiliation wicri:level="3"><nlm:affiliation>School of Medicine, IRCAN, UMR CNRS 7284/INSERM U1081/UNS, Nice Sophia-Antipolis University, Nice, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>School of Medicine, IRCAN, UMR CNRS 7284/INSERM U1081/UNS, Nice Sophia-Antipolis University, Nice</wicri:regionArea><placeName><region type="region">Provence-Alpes-Côte d'Azur</region><region type="old region">Provence-Alpes-Côte d'Azur</region><settlement type="city">Nice</settlement></placeName></affiliation></author><author><name sortKey="Nunes, Virginia" sort="Nunes, Virginia" uniqKey="Nunes V" first="Virginia" last="Nunes">Virginia Nunes</name><affiliation wicri:level="3"><nlm:affiliation>IDIBELL, Hospital Duran i Reynals, 3ª Planta, Gran Via de L'Hospitalet, 199, E-08908- L'Hospitalet de Llobregat, Barcelona, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>IDIBELL, Hospital Duran i Reynals, 3ª Planta, Gran Via de L'Hospitalet, 199, E-08908- L'Hospitalet de Llobregat, Barcelona</wicri:regionArea><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Marshall, Bess" sort="Marshall, Bess" uniqKey="Marshall B" first="Bess" last="Marshall">Bess Marshall</name><affiliation wicri:level="2"><nlm:affiliation>Department of Pediatrics, Washington University School of Medicine, One Children's Place, St. Louis, Missouri.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Missouri (État)</region></placeName><wicri:cityArea>Department of Pediatrics, Washington University School of Medicine, One Children's Place, St. Louis</wicri:cityArea></affiliation></author><author><name sortKey="Mcafferty, Susan" sort="Mcafferty, Susan" uniqKey="Mcafferty S" first="Susan" last="Mcafferty">Susan Mcafferty</name><affiliation wicri:level="4"><nlm:affiliation>IT Services, University of Glasgow, Glasgow, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>IT Services, University of Glasgow, Glasgow</wicri:regionArea><orgName type="university">Université de Glasgow</orgName><placeName><settlement type="city">Glasgow</settlement><region type="country">Écosse</region></placeName></affiliation></author><author><name sortKey="Tillmann, Vallo" sort="Tillmann, Vallo" uniqKey="Tillmann V" first="Vallo" last="Tillmann">Vallo Tillmann</name><affiliation wicri:level="1"><nlm:affiliation>Tartu University Children's Hospital, Tartu, Estonia.</nlm:affiliation><country xml:lang="fr">Estonie</country><wicri:regionArea>Tartu University Children's Hospital, Tartu</wicri:regionArea><wicri:noRegion>Tartu</wicri:noRegion></affiliation></author><author><name sortKey="Maffei, Pietro" sort="Maffei, Pietro" uniqKey="Maffei P" first="Pietro" last="Maffei">Pietro Maffei</name><affiliation wicri:level="1"><nlm:affiliation>Department of Medicine (DIMED), University of Padua, Padua, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Medicine (DIMED), University of Padua, Padua</wicri:regionArea><wicri:noRegion>Padua</wicri:noRegion></affiliation></author><author><name sortKey="Paquis Flucklinger, Veronique" sort="Paquis Flucklinger, Veronique" uniqKey="Paquis Flucklinger V" first="Veronique" last="Paquis-Flucklinger">Veronique Paquis-Flucklinger</name><affiliation wicri:level="3"><nlm:affiliation>School of Medicine, IRCAN, UMR CNRS 7284/INSERM U1081/UNS, Nice Sophia-Antipolis University, Nice, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>School of Medicine, IRCAN, UMR CNRS 7284/INSERM U1081/UNS, Nice Sophia-Antipolis University, Nice</wicri:regionArea><placeName><region type="region">Provence-Alpes-Côte d'Azur</region><region type="old region">Provence-Alpes-Côte d'Azur</region><settlement type="city">Nice</settlement></placeName></affiliation></author><author><name sortKey="Geberhiwot, Tarekign" sort="Geberhiwot, Tarekign" uniqKey="Geberhiwot T" first="Tarekign" last="Geberhiwot">Tarekign Geberhiwot</name><affiliation wicri:level="3"><nlm:affiliation>Department of Metabolism, University Hospitals Birmingham NHS Foundation Trust, Queen Elizabeth Hospital, Queen Elizabeth Medical Centre, Birmingham, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Metabolism, University Hospitals Birmingham NHS Foundation Trust, Queen Elizabeth Hospital, Queen Elizabeth Medical Centre, Birmingham</wicri:regionArea><placeName><settlement type="city">Birmingham</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Midlands de l'Ouest</region></placeName></affiliation></author><author><name sortKey="Mlynarski, Wojciech" sort="Mlynarski, Wojciech" uniqKey="Mlynarski W" first="Wojciech" last="Mlynarski">Wojciech Mlynarski</name><affiliation wicri:level="1"><nlm:affiliation>Department of Paediatrics, Medical University of Lodz, Lodz, Poland.</nlm:affiliation><country xml:lang="fr">Pologne</country><wicri:regionArea>Department of Paediatrics, Medical University of Lodz, Lodz</wicri:regionArea><wicri:noRegion>Lodz</wicri:noRegion></affiliation></author><author><name sortKey="Parkinson, Kay" sort="Parkinson, Kay" uniqKey="Parkinson K" first="Kay" last="Parkinson">Kay Parkinson</name><affiliation wicri:level="1"><nlm:affiliation>Alström Syndrome Europe, Woodpecker Cottage, Paignton, S. Devon, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Alström Syndrome Europe, Woodpecker Cottage, Paignton, S. Devon</wicri:regionArea><wicri:noRegion>S. Devon</wicri:noRegion></affiliation></author><author><name sortKey="Picard, Virginie" sort="Picard, Virginie" uniqKey="Picard V" first="Virginie" last="Picard">Virginie Picard</name><affiliation wicri:level="1"><nlm:affiliation>Association syndrome de Wolfram, Residence Gauguin, Grand-Champ, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Association syndrome de Wolfram, Residence Gauguin, Grand-Champ</wicri:regionArea><wicri:noRegion>Grand-Champ</wicri:noRegion><wicri:noRegion>Grand-Champ</wicri:noRegion></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 wicri:level="1"><nlm:affiliation>Unidad de Géstion Clínica de Garrucha, Área de Gestión Sanitaria Norte de Almería, Avd. Dra. Parra, Almería, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Unidad de Géstion Clínica de Garrucha, Área de Gestión Sanitaria Norte de Almería, Avd. Dra. Parra, Almería</wicri:regionArea><wicri:noRegion>Almería</wicri:noRegion></affiliation></author><author><name sortKey="Dias, Renuka" sort="Dias, Renuka" uniqKey="Dias R" first="Renuka" last="Dias">Renuka Dias</name><affiliation wicri:level="3"><nlm:affiliation>Birmingham Women's and Children's Hospital, Birmingham, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Birmingham Women's and Children's Hospital, Birmingham</wicri:regionArea><placeName><settlement type="city">Birmingham</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Midlands de l'Ouest</region></placeName></affiliation></author><author><name sortKey="Arnold, Amy" sort="Arnold, Amy" uniqKey="Arnold A" first="Amy" last="Arnold">Amy Arnold</name><affiliation wicri:level="3"><nlm:affiliation>Birmingham Women's and Children's Hospital, Birmingham, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Birmingham Women's and Children's Hospital, Birmingham</wicri:regionArea><placeName><settlement type="city">Birmingham</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Midlands de l'Ouest</region></placeName></affiliation></author><author><name sortKey="Richens, Caitlin" sort="Richens, Caitlin" uniqKey="Richens C" first="Caitlin" last="Richens">Caitlin Richens</name><affiliation wicri:level="3"><nlm:affiliation>Birmingham Women's and Children's Hospital, Birmingham, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Birmingham Women's and Children's Hospital, Birmingham</wicri:regionArea><placeName><settlement type="city">Birmingham</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Midlands de l'Ouest</region></placeName></affiliation></author><author><name sortKey="Paisey, Richard" sort="Paisey, Richard" uniqKey="Paisey R" first="Richard" last="Paisey">Richard Paisey</name><affiliation wicri:level="1"><nlm:affiliation>Diabetes Research Unit, Horizon Centre, Torbay Hospital NHS Foundation Trust, Devon, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Diabetes Research Unit, Horizon Centre, Torbay Hospital NHS Foundation Trust, Devon</wicri:regionArea><wicri:noRegion>Devon</wicri:noRegion></affiliation></author><author><name sortKey="Urano, Fumihiko" sort="Urano, Fumihiko" uniqKey="Urano F" first="Fumihiko" last="Urano">Fumihiko Urano</name><affiliation wicri:level="2"><nlm:affiliation>Department of Medicine, Division of Endocrinology, Metabolism, and Lipid Research, Washington University School of Medicine, St. Louis, Missouri.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Missouri (État)</region></placeName><wicri:cityArea>Department of Medicine, Division of Endocrinology, Metabolism, and Lipid Research, Washington University School of Medicine, St. Louis</wicri:cityArea></affiliation></author><author><name sortKey="Semple, Robert" sort="Semple, Robert" uniqKey="Semple R" first="Robert" last="Semple">Robert Semple</name><affiliation wicri:level="1"><nlm:affiliation>University of Cambridge Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, Box 289, Addenbrooke's Hospital, Cambridge, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>University of Cambridge Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, Box 289, Addenbrooke's Hospital, Cambridge</wicri:regionArea><wicri:noRegion>Cambridge</wicri:noRegion></affiliation></author><author><name sortKey="Sinnott, Richard" sort="Sinnott, Richard" uniqKey="Sinnott R" first="Richard" last="Sinnott">Richard Sinnott</name><affiliation wicri:level="4"><nlm:affiliation>Department of information and computing systems, The University of Melbourne, Parkville, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Department of information and computing systems, The University of Melbourne, Parkville</wicri:regionArea><orgName type="university">Université de Melbourne</orgName><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></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 wicri:level="4"><nlm:affiliation>Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Edgbaston, Birmingham, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Edgbaston, Birmingham</wicri:regionArea><placeName><settlement type="city">Birmingham</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Midlands de l'Ouest</region><settlement type="city">Birmingham</settlement></placeName><orgName type="university">Université de Birmingham</orgName></affiliation></author></analytic><series><title level="j">Human mutation</title><idno type="eISSN">1098-1004</idno><imprint><date when="2017" type="published">2017</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">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.</div></front></TEI><pubmed><MedlineCitation Status="In-Process" Owner="NLM"><PMID Version="1">28432734</PMID><DateCreated><Year>2017</Year><Month>04</Month><Day>22</Day></DateCreated><DateRevised><Year>2017</Year><Month>08</Month><Day>16</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1098-1004</ISSN><JournalIssue CitedMedium="Internet"><Volume>38</Volume><Issue>7</Issue><PubDate><Year>2017</Year><Month>Jul</Month></PubDate></JournalIssue><Title>Human mutation</Title><ISOAbbreviation>Hum. Mutat.</ISOAbbreviation></Journal><ArticleTitle>Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.</ArticleTitle><Pagination><MedlinePgn>764-777</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/humu.23233</ELocationID><Abstract><AbstractText>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.</AbstractText><CopyrightInformation>© 2017 The Authors. **Human Mutation published by Wiley Periodicals, Inc.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Astuti</LastName><ForeName>Dewi</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Edgbaston, Birmingham, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Sabir</LastName><ForeName>Ataf</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>West Midlands Regional Genetics Service, Birmingham Women's and Children's Hospital, Edgbaston, Birmingham, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Fulton</LastName><ForeName>Piers</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>West Midlands Regional Genetics Service, Birmingham Women's and Children's Hospital, Edgbaston, Birmingham, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Zatyka</LastName><ForeName>Malgorzata</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Edgbaston, Birmingham, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Williams</LastName><ForeName>Denise</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>West Midlands Regional Genetics Service, Birmingham Women's and Children's Hospital, Edgbaston, Birmingham, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Hardy</LastName><ForeName>Carol</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>West Midlands Regional Genetics Service, Birmingham Women's and Children's Hospital, Edgbaston, Birmingham, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Milan</LastName><ForeName>Gabriella</ForeName><Initials>G</Initials><AffiliationInfo><Affiliation>Department of Medicine (DIMED), University of Padua, Padua, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Favaretto</LastName><ForeName>Francesca</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>Department of Medicine (DIMED), University of Padua, Padua, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Yu-Wai-Man</LastName><ForeName>Patrick</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Newcastle Eye Centre, Royal Victoria Infirmary, Newcastle upon Tyne, UK.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>NIHR Biomedical Research Centre at Moorfields Eye Hospital and UCL Institute of Ophthalmology, London, UK.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Cambridge Centre for Brain Repair, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Rohayem</LastName><ForeName>Julia</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Centrum für Reproduktionsmedizin und Andrologie, WHO Kollaborationszentrum, EAA, Ausbildungszentrum, Universitätsklinikum Münster, Münster, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>López de Heredia</LastName><ForeName>Miguel</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>IDIBELL, Hospital Duran i Reynals, 3ª Planta, Gran Via de L'Hospitalet, 199, E-08908- L'Hospitalet de Llobregat, Barcelona, Spain.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Centro de Investigación en Red de Enfermedades Raras (CIBERER), U-730, Hospital Duran i Reynals, 3ª Planta, Gran Via de L'Hospitalet, 199, E-08908-L'Hospitalet de Llobregat, Barcelona, Spain.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Hershey</LastName><ForeName>Tamara</ForeName><Initials>T</Initials><AffiliationInfo><Affiliation>Departments of Psychiatry, Neurology and Radiology, Washington University School of Medicine, St. Louis, Missouri.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Tranebjaerg</LastName><ForeName>Lisbeth</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>Department of Clinical Genetics, University Hospital/The Kennedy Centre, Glostrup, Denmark.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Institute of Clinical Medicine, The Panum Institute, University of Copenhagen, Copenhagen, Denmark.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Chen</LastName><ForeName>Jian-Hua</ForeName><Initials>JH</Initials><AffiliationInfo><Affiliation>University of Cambridge Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, Box 289, Addenbrooke's Hospital, Cambridge, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Chaussenot</LastName><ForeName>Annabel</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>School of Medicine, IRCAN, UMR CNRS 7284/INSERM U1081/UNS, Nice Sophia-Antipolis University, Nice, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Nunes</LastName><ForeName>Virginia</ForeName><Initials>V</Initials><AffiliationInfo><Affiliation>IDIBELL, Hospital Duran i Reynals, 3ª Planta, Gran Via de L'Hospitalet, 199, E-08908- L'Hospitalet de Llobregat, Barcelona, Spain.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Centro de Investigación en Red de Enfermedades Raras (CIBERER), U-730, Hospital Duran i Reynals, 3ª Planta, Gran Via de L'Hospitalet, 199, E-08908-L'Hospitalet de Llobregat, Barcelona, Spain.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Genetics Section, Physiological Sciences Department, Health Sciences and Medicine Faculty, University of Barcelona.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Marshall</LastName><ForeName>Bess</ForeName><Initials>B</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, Washington University School of Medicine, One Children's Place, St. Louis, Missouri.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>McAfferty</LastName><ForeName>Susan</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>IT Services, University of Glasgow, Glasgow, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Tillmann</LastName><ForeName>Vallo</ForeName><Initials>V</Initials><AffiliationInfo><Affiliation>Tartu University Children's Hospital, Tartu, Estonia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Maffei</LastName><ForeName>Pietro</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Department of Medicine (DIMED), University of Padua, Padua, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Paquis-Flucklinger</LastName><ForeName>Veronique</ForeName><Initials>V</Initials><AffiliationInfo><Affiliation>School of Medicine, IRCAN, UMR CNRS 7284/INSERM U1081/UNS, Nice Sophia-Antipolis University, Nice, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Geberhiwot</LastName><ForeName>Tarekign</ForeName><Initials>T</Initials><AffiliationInfo><Affiliation>Department of Metabolism, University Hospitals Birmingham NHS Foundation Trust, Queen Elizabeth Hospital, Queen Elizabeth Medical Centre, Birmingham, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mlynarski</LastName><ForeName>Wojciech</ForeName><Initials>W</Initials><AffiliationInfo><Affiliation>Department of Paediatrics, Medical University of Lodz, Lodz, Poland.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Parkinson</LastName><ForeName>Kay</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Alström Syndrome Europe, Woodpecker Cottage, Paignton, S. Devon, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Picard</LastName><ForeName>Virginie</ForeName><Initials>V</Initials><AffiliationInfo><Affiliation>Association syndrome de Wolfram, Residence Gauguin, Grand-Champ, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bueno</LastName><ForeName>Gema Esteban</ForeName><Initials>GE</Initials><AffiliationInfo><Affiliation>Unidad de Géstion Clínica de Garrucha, Área de Gestión Sanitaria Norte de Almería, Avd. Dra. Parra, Almería, Spain.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Dias</LastName><ForeName>Renuka</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Birmingham Women's and Children's Hospital, Birmingham, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Arnold</LastName><ForeName>Amy</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Birmingham Women's and Children's Hospital, Birmingham, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Richens</LastName><ForeName>Caitlin</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Birmingham Women's and Children's Hospital, Birmingham, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Paisey</LastName><ForeName>Richard</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Diabetes Research Unit, Horizon Centre, Torbay Hospital NHS Foundation Trust, Devon, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Urano</LastName><ForeName>Fumihiko</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>Department of Medicine, Division of Endocrinology, Metabolism, and Lipid Research, Washington University School of Medicine, St. Louis, Missouri.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Semple</LastName><ForeName>Robert</ForeName><Initials>R</Initials><Identifier Source="ORCID">http://orcid.org/0000-0001-6539-3069</Identifier><AffiliationInfo><Affiliation>University of Cambridge Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, Box 289, Addenbrooke's Hospital, Cambridge, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Sinnott</LastName><ForeName>Richard</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Department of information and computing systems, The University of Melbourne, Parkville, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Barrett</LastName><ForeName>Timothy G</ForeName><Initials>TG</Initials><Identifier Source="ORCID">http://orcid.org/0000-0002-6873-0750</Identifier><AffiliationInfo><Affiliation>Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Edgbaston, Birmingham, UK.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Birmingham Women's and Children's Hospital, Birmingham, UK.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><Agency>Wellcome Trust</Agency><Country>United Kingdom</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2017</Year><Month>06</Month><Day>01</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Hum 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PubStatus="pubmed"><Year>2017</Year><Month>4</Month><Day>23</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2017</Year><Month>4</Month><Day>23</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2017</Year><Month>4</Month><Day>23</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">28432734</ArticleId><ArticleId IdType="doi">10.1002/humu.23233</ArticleId><ArticleId IdType="pmc">PMC5535005</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Allemagne</li><li>Australie</li><li>Danemark</li><li>Espagne</li><li>Estonie</li><li>France</li><li>Italie</li><li>Pologne</li><li>Royaume-Uni</li><li>États-Unis</li></country><region><li>Angleterre</li><li>Catalogne</li><li>District de Münster</li><li>Midlands de l'Ouest</li><li>Missouri (État)</li><li>Provence-Alpes-Côte d'Azur</li><li>Rhénanie-du-Nord-Westphalie</li><li>Victoria (État)</li><li>Écosse</li></region><settlement><li>Barcelone</li><li>Birmingham</li><li>Glasgow</li><li>Melbourne</li><li>Münster</li><li>Nice</li></settlement><orgName><li>Université de Birmingham</li><li>Université de Glasgow</li><li>Université de Melbourne</li></orgName></list><tree><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Astuti, Dewi" sort="Astuti, Dewi" uniqKey="Astuti D" first="Dewi" last="Astuti">Dewi Astuti</name></region><name sortKey="Arnold, Amy" sort="Arnold, Amy" uniqKey="Arnold A" first="Amy" last="Arnold">Amy Arnold</name><name sortKey="Barrett, Timothy G" sort="Barrett, Timothy G" uniqKey="Barrett T" first="Timothy G" last="Barrett">Timothy G. Barrett</name><name sortKey="Chen, Jian Hua" sort="Chen, Jian Hua" 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="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="Mcafferty, Susan" sort="Mcafferty, Susan" uniqKey="Mcafferty S" first="Susan" last="Mcafferty">Susan Mcafferty</name><name sortKey="Paisey, Richard" sort="Paisey, Richard" uniqKey="Paisey R" first="Richard" last="Paisey">Richard Paisey</name><name sortKey="Parkinson, Kay" sort="Parkinson, Kay" uniqKey="Parkinson K" first="Kay" last="Parkinson">Kay Parkinson</name><name sortKey="Richens, Caitlin" sort="Richens, Caitlin" uniqKey="Richens C" first="Caitlin" last="Richens">Caitlin Richens</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="Williams, Denise" sort="Williams, Denise" uniqKey="Williams D" first="Denise" last="Williams">Denise Williams</name><name sortKey="Yu Wai Man, Patrick" sort="Yu Wai Man, Patrick" uniqKey="Yu Wai Man 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></country><country name="Italie"><noRegion><name sortKey="Milan, Gabriella" sort="Milan, Gabriella" uniqKey="Milan G" first="Gabriella" last="Milan">Gabriella Milan</name></noRegion><name sortKey="Favaretto, Francesca" sort="Favaretto, Francesca" uniqKey="Favaretto F" first="Francesca" last="Favaretto">Francesca Favaretto</name><name sortKey="Maffei, Pietro" sort="Maffei, Pietro" uniqKey="Maffei P" first="Pietro" last="Maffei">Pietro Maffei</name></country><country name="Allemagne"><region name="Rhénanie-du-Nord-Westphalie"><name sortKey="Rohayem, Julia" sort="Rohayem, Julia" uniqKey="Rohayem J" first="Julia" last="Rohayem">Julia Rohayem</name></region></country><country name="Espagne"><region name="Catalogne"><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></region><name sortKey="Bueno, Gema Esteban" sort="Bueno, Gema Esteban" uniqKey="Bueno G" first="Gema Esteban" last="Bueno">Gema Esteban Bueno</name><name sortKey="Nunes, Virginia" sort="Nunes, Virginia" uniqKey="Nunes V" first="Virginia" last="Nunes">Virginia Nunes</name></country><country name="États-Unis"><region name="Missouri (État)"><name sortKey="Hershey, Tamara" sort="Hershey, Tamara" uniqKey="Hershey T" first="Tamara" last="Hershey">Tamara Hershey</name></region><name sortKey="Marshall, Bess" sort="Marshall, Bess" uniqKey="Marshall B" first="Bess" last="Marshall">Bess Marshall</name><name sortKey="Urano, Fumihiko" sort="Urano, Fumihiko" uniqKey="Urano F" first="Fumihiko" last="Urano">Fumihiko Urano</name></country><country name="Danemark"><noRegion><name sortKey="Tranebjaerg, Lisbeth" sort="Tranebjaerg, Lisbeth" uniqKey="Tranebjaerg L" first="Lisbeth" last="Tranebjaerg">Lisbeth Tranebjaerg</name></noRegion></country><country name="France"><region name="Provence-Alpes-Côte d'Azur"><name sortKey="Chaussenot, Annabel" sort="Chaussenot, Annabel" uniqKey="Chaussenot A" first="Annabel" last="Chaussenot">Annabel Chaussenot</name></region><name sortKey="Paquis Flucklinger, Veronique" sort="Paquis Flucklinger, Veronique" uniqKey="Paquis Flucklinger V" first="Veronique" last="Paquis-Flucklinger">Veronique Paquis-Flucklinger</name><name sortKey="Picard, Virginie" sort="Picard, Virginie" uniqKey="Picard V" first="Virginie" last="Picard">Virginie Picard</name></country><country name="Estonie"><noRegion><name sortKey="Tillmann, Vallo" sort="Tillmann, Vallo" uniqKey="Tillmann V" first="Vallo" last="Tillmann">Vallo Tillmann</name></noRegion></country><country name="Pologne"><noRegion><name sortKey="Mlynarski, Wojciech" sort="Mlynarski, Wojciech" uniqKey="Mlynarski W" first="Wojciech" last="Mlynarski">Wojciech Mlynarski</name></noRegion></country><country name="Australie"><region name="Victoria (État)"><name sortKey="Sinnott, Richard" sort="Sinnott, Richard" uniqKey="Sinnott R" first="Richard" last="Sinnott">Richard Sinnott</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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