دورية أكاديمية
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First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders.

التفاصيل البيبلوغرافية
العنوان: First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders.
المؤلفون: Mackay D; Wessex Regional Genetics Laboratory, Salisbury, SP2 8BJ, UK.; Faculty of Medicine, University of Southampton, Southampton, SO17 1BJ, UK., Bliek J; Department of Human Genetics, Laboratory for Genome Diagnostics, Amsterdam UMC, Amsterdam, Netherlands., Kagami M; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan., Tenorio-Castano J; Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.; CIBERER- ISCIII and INGEMM, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Madrid, Spain.; ERN-Ithaca, European Reference Networks, Brussels, Belgium., Pereda A; Rare Diseases Research Group, Molecular (Epi)Genetics Laboratory, Bioaraba Health Research Institute, Araba University Hospital-Txagorritxu, C/Jose Atxotegi s/n, 01009, Vitoria-Gasteiz, Spain., Brioude F; INSERM, UMR 938, Centre de Recherche Saint-Antoine (CRSA), APHP Hôpital Trousseau, Sorbonne Université, 75012, Paris, France., Netchine I; INSERM, UMR 938, Centre de Recherche Saint-Antoine (CRSA), APHP Hôpital Trousseau, Sorbonne Université, 75012, Paris, France., Papingi D; Institute of Human Genetics, University of Hamburg, Hamburg, Germany., de Franco E; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK., Lever M; Wessex Regional Genetics Laboratory, Salisbury, SP2 8BJ, UK.; Faculty of Medicine, University of Southampton, Southampton, SO17 1BJ, UK., Sillibourne J; Wessex Regional Genetics Laboratory, Salisbury, SP2 8BJ, UK.; Faculty of Medicine, University of Southampton, Southampton, SO17 1BJ, UK., Lombardi P; Department of Human Genetics, Laboratory for Genome Diagnostics, Amsterdam UMC, Amsterdam, Netherlands., Gaston V; Centre de Référence du Syndrome de Prader-Willi et Autres Obésités Avec Troubles du Comportement Alimentaire, Unité d'Endocrinologie, Obésité, Maladies Osseuses, Génétique et Gynécologie Médicale, Hôpital des Enfants CHU Toulouse, Toulouse, France., Tauber M; Centre de Référence du Syndrome de Prader-Willi et Autres Obésités Avec Troubles du Comportement Alimentaire, Unité d'Endocrinologie, Obésité, Maladies Osseuses, Génétique et Gynécologie Médicale, Hôpital des Enfants CHU Toulouse, Toulouse, France., Diene G; Laboratoire de Génétique Médicale, Institut Fédératif de Biologie CHU Toulouse, Toulouse, France., Bieth E; Laboratoire de Génétique Médicale, Institut Fédératif de Biologie CHU Toulouse, Toulouse, France., Fernandez L; Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.; CIBERER- ISCIII and INGEMM, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Madrid, Spain.; ERN-Ithaca, European Reference Networks, Brussels, Belgium., Nevado J; Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.; CIBERER- ISCIII and INGEMM, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Madrid, Spain.; ERN-Ithaca, European Reference Networks, Brussels, Belgium., Tümer Z; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Riccio A; Department of Environmental, Biological and Pharmaceutical Sciences and Technologies, University of Campania 'Luigi Vanvitelli', Caserta, Italy.; Institute of Genetics and Biophysics 'Adriano Buzzati-Traverso' CNR, Naples, Italy., Maher ER; Department of Medical Genetics, University of Cambridge, Cambridge, CB2 0QQ, UK., Beygo J; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany., Tannorella P; Medical Cytogenetics and Molecular Genetics Laboratory, Centro di Ricerche e Tecnologie Biomediche, Istituto Auxologico Italiano, IRCCS, Milan, Italy., Russo S; Medical Cytogenetics and Molecular Genetics Laboratory, Centro di Ricerche e Tecnologie Biomediche, Istituto Auxologico Italiano, IRCCS, Milan, Italy., de Nanclares GP; ERN-Ithaca, European Reference Networks, Brussels, Belgium., Temple IK; Faculty of Medicine, University of Southampton, Southampton, SO17 1BJ, UK.; Wessex Clinical Genetics Service, University Hospital Southampton, Southampton, UK., Ogata T; Department of Pediatrics, Hamamatsu Medical Center and Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan., Lapunzina P; Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.; CIBERER- ISCIII and INGEMM, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Madrid, Spain.; ERN-Ithaca, European Reference Networks, Brussels, Belgium., Eggermann T; Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Pauwelsstr. 30, 52074, Aachen, Germany. teggermann@ukaachen.de.
المصدر: Clinical epigenetics [Clin Epigenetics] 2022 Nov 07; Vol. 14 (1), pp. 143. Date of Electronic Publication: 2022 Nov 07.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: BiomedCentral Country of Publication: Germany NLM ID: 101516977 Publication Model: Electronic Cited Medium: Internet ISSN: 1868-7083 (Electronic) Linking ISSN: 18687075 NLM ISO Abbreviation: Clin Epigenetics Subsets: MEDLINE
أسماء مطبوعة: Publication: Oct./Nov. 2011- : London : BiomedCentral
Original Publication: Berlin : Springer-Verlag
مواضيع طبية MeSH: Silver-Russell Syndrome*/diagnosis , Silver-Russell Syndrome*/genetics , Beckwith-Wiedemann Syndrome*/diagnosis , Beckwith-Wiedemann Syndrome*/genetics, Humans ; Genomic Imprinting ; DNA Methylation ; Growth Disorders/genetics ; Diagnostic Techniques and Procedures
مستخلص: Background: Imprinting disorders, which affect growth, development, metabolism and neoplasia risk, are caused by genetic or epigenetic changes to genes that are expressed from only one parental allele. Disease may result from changes in coding sequences, copy number changes, uniparental disomy or imprinting defects. Some imprinting disorders are clinically heterogeneous, some are associated with more than one imprinted locus, and some patients have alterations affecting multiple loci. Most imprinting disorders are diagnosed by stepwise analysis of gene dosage and methylation of single loci, but some laboratories assay a panel of loci associated with different imprinting disorders. We looked into the experience of several laboratories using single-locus and/or multi-locus diagnostic testing to explore how different testing strategies affect diagnostic outcomes and whether multi-locus testing has the potential to increase the diagnostic efficiency or reveal unforeseen diagnoses.
Results: We collected data from 11 laboratories in seven countries, involving 16,364 individuals and eight imprinting disorders. Among the 4721 individuals tested for the growth restriction disorder Silver-Russell syndrome, 731 had changes on chromosomes 7 and 11 classically associated with the disorder, but 115 had unexpected diagnoses that involved atypical molecular changes, imprinted loci on chromosomes other than 7 or 11 or multi-locus imprinting disorder. In a similar way, the molecular changes detected in Beckwith-Wiedemann syndrome and other imprinting disorders depended on the testing strategies employed by the different laboratories.
Conclusions: Based on our findings, we discuss how multi-locus testing might optimise diagnosis for patients with classical and less familiar clinical imprinting disorders. Additionally, our compiled data reflect the daily life experiences of diagnostic laboratories, with a lower diagnostic yield than in clinically well-characterised cohorts, and illustrate the need for systematising clinical and molecular data.
(© 2022. The Author(s).)
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معلومات مُعتمدة: WT098395/Z/12/Z United Kingdom WT_ Wellcome Trust; United Kingdom DH_ Department of Health
فهرسة مساهمة: Keywords: Genetic testing; Imprinting disorders; Multi-locus imprinting disorder; Multi-locus testing; Overlapping phenotypes; Unexpected molecular diagnosis
تواريخ الأحداث: Date Created: 20221108 Date Completed: 20221109 Latest Revision: 20221116
رمز التحديث: 20231215
مُعرف محوري في PubMed: PMC9641836
DOI: 10.1186/s13148-022-01358-9
PMID: 36345041
قاعدة البيانات: MEDLINE
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