European Journal of Endocrinology Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 'DSDnet'
| Autor: | L Audí, S F Ahmed, N Krone, M Cools, K McElreavey, P M Holterhus, A Greenfield, A Bashamboo, O Hiort, S A Wudy, R McGowan |
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| Přispěvatelé: | Vall d’Hebron Research Institute (VHIR), University of Glasgow (University of Glasgow), University of Sheffield [Sheffield], Ghent University Hospital, Génétique du Développement humain - Human developmental genetics, Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), Christian-Albrechts University and University Hospital Schleswig-Holstein, Campus Kiel, Medical Research Coucil Harwell [Oxford, UK] (MRC Harwell), MRC Harwell, Universität zu Lübeck [Lübeck], Justus-Liebig-University [Gießen, Germany], University of Glasgow, Queen Elizabeth University Hospital (Glasgow), This article is based upon work from COST Action BM1303 DSDnet, supported by COST (European Cooperation in Science and Technology). O H (chair of COST Action and chair of working group 5), L A (co-chair of COST Action and working group 3), S A W (chair of working group 3), S F A (chair of working group 4), M C (chair of working group 1), N K (working group 3), K McE (chair of working group 2), P M H (working group 3), A G (working group 2), A B (working group 2) as well as R McG (international partner) appreciate support from BMBS COST Action BM1303., Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), Universität zu Lübeck = University of Lübeck [Lübeck], Justus-Liebig-Universität Gießen = Justus Liebig University (JLU) |
| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: |
ANOMALIES
0301 basic medicine Candidate gene Computer science Endocrinology Diabetes and Metabolism Disorders of Sex Development MEDICAL GENETICS EXOME Review Gonadal Dysgenesis Endocrinology Medicine and Health Sciences Copy-number variation Exome Exome sequencing media_common General Medicine PREVALENCE 3. Good health Diabetes and Metabolism Molecular Diagnostic Techniques Practice Guidelines as Topic Medical genetics Identification (biology) medicine.medical_specialty DNA Copy Number Variations Karyotype AMERICAN-COLLEGE 03 medical and health sciences Internal medicine Exome Sequencing medicine Humans media_common.cataloged_instance GONADAL-DYSGENESIS European Union European union Molecular Biology CGH Adrenal Hyperplasia Congenital Whole Genome Sequencing IDENTIFICATION MUTATIONS Sequence Analysis DNA 030104 developmental biology XY DISORDERS Position paper [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology |
| Zdroj: | European Journal of Endocrinology European Journal of Endocrinology, BioScientifica, 2018, ⟨10.1530/EJE-18-0256⟩ EUROPEAN JOURNAL OF ENDOCRINOLOGY European Journal of Endocrinology, 2018, ⟨10.1530/EJE-18-0256⟩ |
| ISSN: | 0804-4643 1479-683X |
| DOI: | 10.1530/EJE-18-0256⟩ |
| Popis: | International audience; The differential diagnosis of differences or disorders of sex development (DSD) belongs to the most complex fields in medicine. It requires a multidisciplinary team conducting a synoptic and complementary approach consisting of thorough clinical, hormonal and genetic workups. This position paper of EU COST (European Cooperation in Science and Technology) Action BM1303 'DSDnet' was written by leading experts in the field and focuses on current best practice in genetic diagnosis in DSD patients. Ascertainment of the karyotpye defines one of the three major diagnostic DSD subclasses and is therefore the mandatory initial step. Subsequently, further analyses comprise molecular studies of monogenic DSD causes or analysis of copy number variations (CNV) or both. Panels of candidate genes provide rapid and reliable results. Whole exome and genome sequencing (WES and WGS) represent valuable methodological developments that are currently in the transition from basic science to clinical routine service in the field of DSD. However, in addition to covering known DSD candidate genes, WES and WGS help to identify novel genetic causes for DSD. Diagnostic interpretation must be performed with utmost caution and needs careful scientific validation in each DSD case. |
| Databáze: | OpenAIRE |
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