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SHR Neuro Cancer Cardio Lipid Metab Microb

Meyer, R; Begemann, M; Hübner, CT; Dey, D; Kuechler, A; Elgizouli, M; Schara, U; Ambrozaityte, L; Burnyte, B; Schröder, C; Kenawy, A; Kroisel, P; Demuth, S; Fekete, G; Opladen, T; Elbracht, M; Eggermann, T.
One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome.
Orphanet J Rare Dis. 2021; 16(1): 42 Doi: 10.1186/s13023-021-01683-x [OPEN ACCESS]
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Co-authors Med Uni Graz

Kroisel Peter

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Abstract:

BACKGROUND: 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. MAIN BODY: We analysed 75 patients referred for molecular testing for SRS by a NGS-based multigene panel, whole exome sequencing (WES), and trio-based WES. In 21/75 patients a disease-causing variant could be identified among them variants in known SRS genes (IGF2, PLAG1, HMGA2). Several patients carried variants in genes which have not yet been considered as differential diagnoses of SRS. CONCLUSIONS: WES approaches significantly increase the diagnostic yield in patients referred for SRS testing. Several of the identified monogenetic disorders have a major impact on clinical management and genetic counseling.

Find related publications in this database (using NLM MeSH Indexing)

DNA Methylation - administration & dosage

Humans - administration & dosage

Molecular Diagnostic Techniques - administration & dosage

Phenotype - administration & dosage

Silver-Russell Syndrome - diagnosis, genetics

Uniparental Disomy - administration & dosage

Whole Exome Sequencing - administration & dosage

Find related publications in this database (Keywords)

Silver-Russell syndrome

Next generation sequencing

Diagnostic detection rate

Whole exome sequencing

Targeted multigene panel NGS

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