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One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome

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 matern...

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Hauptverfasser: Meyer, Robert (VerfasserIn) , Opladen, Thomas (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: 22 January 2021
In: Orphanet journal of rare diseases
Year: 2021, Jahrgang: 16, Pages: 1-10
ISSN:1750-1172
DOI:10.1186/s13023-021-01683-x
Online-Zugang:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1186/s13023-021-01683-x
Volltext
Verfasserangaben: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
Beschreibung
Zusammenfassung: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.
Beschreibung:Gesehen am 05.03.2021
Beschreibung:Online Resource
ISSN:1750-1172
DOI:10.1186/s13023-021-01683-x

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