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dc.contributor.author Meyer R
dc.contributor.author Soellner L
dc.contributor.author Begemann M
dc.contributor.author Dicks S
dc.contributor.author Fekete, György
dc.contributor.author Rahner N
dc.contributor.author Zerres K
dc.contributor.author Elbracht M
dc.contributor.author Eggermann T
dc.date.accessioned 2018-10-17T16:38:28Z
dc.date.available 2018-10-17T16:38:28Z
dc.date.issued 2017
dc.identifier.citation pagination=206-212; journalVolume=187; journalTitle=JOURNAL OF PEDIATRICS;
dc.identifier.uri http://repo.lib.semmelweis.hu//handle/123456789/5444
dc.identifier.uri doi:10.1016/j.jpeds.2017.04.018
dc.description.abstract OBJECTIVE: To investigate the contribution of differential diagnoses to the mutation spectrum of patients referred for Silver-Russell syndrome (SRS) testing. STUDY DESIGN: 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. RESULTS: 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. CONCLUSIONS: 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 approach including the differential diagnoses of SRS increases the detection rate.
dc.relation.ispartof urn:issn:0022-3476
dc.title 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
dc.type Journal Article
dc.date.updated 2018-05-15T06:36:22Z
dc.language.rfc3066 en
dc.identifier.mtmt 3291543
dc.identifier.pubmed 28529015
dc.contributor.department SE/AOK/K/II. Sz. Gyermekgyógyászati Klinika
dc.contributor.institution Semmelweis Egyetem


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