Targeted Next Generation Sequencing Approach in Patients Referred for Silver-Russell Syndrome Testing Increases the Mutation Detection Rate and Provides Decisive Information for Clinical Management

The Journal of Pediatrics
Robert MeyerT Eggermann

Abstract

To investigate the contribution of differential diagnoses to the mutation spectrum of patients referred for Silver-Russell syndrome (SRS) testing. Forty-seven patients referred for molecular testing for SRS were examined after exclusion of one of the SRS-associated alterations. After clinical classification, a targeted next generation sequencing approach comprising 25 genes associated with other diagnoses or postulated as SRS candidate genes was performed. By applying the Netchine-Harbinson clinical scoring system, indication for molecular testing for SRS was confirmed in 15 out of 47 patients. In 4 out of these 15 patients, disease-causing variants were found in genes associated with other diagnoses. These patients carried mutations associated with Bloom syndrome, Mulibrey nanism, KBG syndrome, or IGF1R-associated short stature. We could not detect any pathogenic mutation in patients with a negative clinical score. Some of the differential diagnoses detected in the cohort presented here have a major impact on clinical management. Therefore, we emphasize that the molecular defects associated with these clinical pictures should be excluded before the clinical diagnosis "SRS" is made. Finally, we could show that a broad molecular...Continue Reading

Citations

Oct 31, 2019·The Journal of Clinical Endocrinology and Metabolism·Giuseppa PattiNatascia Di Iorgi
Oct 7, 2019·Journal of Medical Genetics·Eloïse GiabicaniFrédéric Brioude
Aug 29, 2020·American Journal of Medical Genetics. Part a·Robert MeyerThomas Eggermann
Aug 18, 2017·American Journal of Medical Genetics. Part a·Florence JobicGuillaume Jedraszak
Aug 26, 2020·Journal of Molecular Medicine : Official Organ of the Gesellschaft Deutscher Naturforscher Und Ärzte·Thomas EggermannMatthias Begemann
Oct 9, 2020·Reviews in Endocrine & Metabolic Disorders·Vivian HwaRon G Rosenfeld
Jul 20, 2021·European Journal of Human Genetics : EJHG·Aurélie PhamIrène Netchine

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