The Frequency of Methylation Abnormalities Among Estonian Patients Selected by Clinical Diagnostic Scoring Systems for Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome.

Autor:	Vals MA; 1 Department of Genetics, United Laboratories, Tartu University Hospital , Tartu, Estonia .; 2 Department of Pediatrics, University of Tartu , Tartu, Estonia .; 3 Children's Clinic, Tartu University Hospital , Tartu, Estonia ., Yakoreva M; 1 Department of Genetics, United Laboratories, Tartu University Hospital , Tartu, Estonia .; 2 Department of Pediatrics, University of Tartu , Tartu, Estonia ., Kahre T; 1 Department of Genetics, United Laboratories, Tartu University Hospital , Tartu, Estonia .; 2 Department of Pediatrics, University of Tartu , Tartu, Estonia ., Mee P; 4 United Laboratories, Tartu University Hospital , Tartu, Estonia ., Muru K; 1 Department of Genetics, United Laboratories, Tartu University Hospital , Tartu, Estonia .; 2 Department of Pediatrics, University of Tartu , Tartu, Estonia ., Joost K; 1 Department of Genetics, United Laboratories, Tartu University Hospital , Tartu, Estonia ., Teek R; 1 Department of Genetics, United Laboratories, Tartu University Hospital , Tartu, Estonia .; 2 Department of Pediatrics, University of Tartu , Tartu, Estonia ., Soellner L; 5 Institute of Human Genetics , RWTH Aachen, Aachen, Germany ., Eggermann T; 5 Institute of Human Genetics , RWTH Aachen, Aachen, Germany ., Õunap K; 1 Department of Genetics, United Laboratories, Tartu University Hospital , Tartu, Estonia .; 2 Department of Pediatrics, University of Tartu , Tartu, Estonia .
Jazyk:	angličtina
Zdroj:	Genetic testing and molecular biomarkers [Genet Test Mol Biomarkers] 2015 Dec; Vol. 19 (12), pp. 684-91. Date of Electronic Publication: 2015 Oct 27.
DOI:	10.1089/gtmb.2015.0163
Abstrakt:	Aims: To study the frequency of methylation abnormalities among Estonian patients selected according to published clinical diagnostic scoring systems for Silver-Russell syndrome (SRS) and Beckwith-Wiedemann syndrome (BWS). Materials and Methods: Forty-eight patients with clinical suspicion of SRS (n = 20) or BWS (n = 28) were included in the study group, to whom methylation-specific multiplex ligation-dependant probe amplification analysis of 11p15 region was made. In addition, to patients with minimal diagnostic score for either SRS or BWS, multilocus methylation-specific single nucleotide primer extension assay was performed. Results: Five (38%) SRS patients with positive clinical scoring had abnormal methylation pattern at chromosome 11p15, whereas in the BWS group, only one patient was diagnosed with imprinting control region 2 (ICR2) hypomethylation (8%). An unexpected hypomethylation of the PLAGL1 (6q24) and IGF2R (6q25) genes in the patient with the highest BWS scoring was found. Conclusions: Compared to BWS, diagnostic criteria used for selecting SRS patients gave us a similar detection rate of 11p15 imprinting disorders as seen in other studies. A more careful selection of patients with possible BWS should be considered to improve the detection of molecularly confirmed cases. Genome-wide multilocus methylation tests could be used in routine clinical practice as it increases the detection rates of imprinting disorders.
Databáze:	MEDLINE
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