1. The Frequency of Methylation Abnormalities Among Estonian Patients Selected by Clinical Diagnostic Scoring Systems for Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome.
- Author
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Vals MA, Yakoreva M, Kahre T, Mee P, Muru K, Joost K, Teek R, Soellner L, Eggermann T, and Õunap K
- Subjects
- Estonia, Female, Humans, Infant, Infant, Newborn, Male, Beckwith-Wiedemann Syndrome diagnosis, Beckwith-Wiedemann Syndrome genetics, Beckwith-Wiedemann Syndrome metabolism, Cell Cycle Proteins genetics, Cell Cycle Proteins metabolism, DNA Methylation, Receptor, IGF Type 2 genetics, Receptor, IGF Type 2 metabolism, Silver-Russell Syndrome diagnosis, Silver-Russell Syndrome genetics, Silver-Russell Syndrome metabolism, Transcription Factors genetics, Transcription Factors metabolism, Tumor Suppressor Proteins genetics, Tumor Suppressor Proteins metabolism
- Abstract
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.
- Published
- 2015
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