One test for all

• Verfasst von: Meyer, Robert [VerfasserIn]
• Verfasst von: Opladen, Thomas [VerfasserIn]
• Titel: One test for all
• Titelzusatz: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome
• Verf.angabe: Robert Meyer, Matthias Begemann, Christian Thomas Hübner, Daniela Dey, Alma Kuechler, Magdeldin Elgizouli, Ulrike Schara, Laima Ambrozaityte, Birute Burnyte, Carmen Schröder, Asmaa Kenawy, Peter Kroisel, Stephanie Demuth, Gyorgy Fekete, Thomas Opladen, Miriam Elbracht and Thomas Eggermann
• E-Jahr: 2021
• Jahr: 22 January 2021
• Teil: volume:16
• Teil: year:2021
• Teil: elocationid:42
• Teil: pages:1-10
• Fussnoten: Gesehen am 05.03.2021
• Titel Quelle: Enthalten in: Orphanet journal of rare diseases
• Ort Quelle: London : BioMed Central, 2006
• Jahr Quelle: 2021
• Band/Heft Quelle: 16(2021), Artikel-ID 42, Seite 1-10
• ISSN Quelle: 1750-1172
• DOI: doi:10.1186/s13023-021-01683-x
• Datenträger: Online-Ressource
• Sprache: eng
• Sach-SW: Diagnostic detection rate
• Sach-SW: Next generation sequencing
• Sach-SW: Silver-Russell syndrome
• Sach-SW: Targeted multigene panel NGS
• Sach-SW: Whole exome sequencing
• K10plus-PPN: 1750530600

Abstract

Silver-Russell syndrome (SRS) is an imprinting disorder which is characterised by severe primordial growth retardation, relative macrocephaly and a typical facial gestalt. The clinical heterogeneity of SRS is reflected by a broad spectrum of molecular changes with hypomethylation in 11p15 and maternal uniparental disomy of chromosome 7 (upd(7)mat) as the most frequent findings. Monogenetic causes are rare, but a clinical overlap with numerous other disorders has been reported. However, a comprehensive overview on the contribution of mutations in differential diagnostic genes to phenotypes reminiscent to SRS is missing due to the lack of appropriate tests. With the implementation of next generation sequencing (NGS) tools this limitation can now be circumvented.