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

Genet Test Mol Biomarkers 2015 Dec 27;19(12):684-91. Epub 2015 Oct 27.

1 Department of Genetics, United Laboratories, Tartu University Hospital , Tartu, Estonia .

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.

Download full-text PDF

Source
http://www.liebertpub.com/doi/10.1089/gtmb.2015.0163
Publisher Site
http://dx.doi.org/10.1089/gtmb.2015.0163DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4677517PMC
December 2015

Publication Analysis

Top Keywords

srs patients
8
scoring systems
8
clinical diagnostic
8
systems silver-russell
8
silver-russell syndrome
8
imprinting disorders
8
beckwith-wiedemann syndrome
8
patients selected
8
diagnostic scoring
8
abnormalities estonian
8
methylation abnormalities
8
estonian patients
8
frequency methylation
8
patients
7
bws
6
clinical
5
srs
5
control region
4
hypomethylation unexpected
4
icr2 hypomethylation
4

Similar Publications