Publications by authors named "Pille Mee"
Article Synopsis
- Imprinting disorders (ImpDis) are rare congenital diseases that affect growth, development, and metabolic functions, with a study conducted in Estonia identifying 87 cases from 1998-2016.
- Among the identified cases, Prader-Willi syndrome (31%) and Angelman syndrome (17%) were the most common, with some patients testing negative for genetic abnormalities despite meeting diagnostic criteria.
- The study found a total prevalence of 5.8 cases per 100,000 in Estonia, suggesting that existing data on worldwide prevalence, particularly for Silver-Russell syndrome and related disorders, may be significantly underestimated.
Silver-Russell syndrome (SRS) and Beckwith-Wiedemann syndrome (BWS) are 2 opposite growth-affecting disorders. The common molecular cause for both syndromes is an abnormal regulation of genes in chromosomal region 11p15, where 2 imprinting control regions (ICR) control fetal and postnatal growth. Also, many submicroscopic chromosomal disturbances like duplications in 11p15 have been described among SRS and BWS patients.
View Article and Find Full Text PDFAims: 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.