Publications by authors named "R Zordania"
Article Synopsis
- - KBG syndrome (KBGS) is marked by unique facial features, short stature, and varied clinical symptoms, with a significant portion of individuals experiencing intellectual disability and epilepsy.
- - A recent European study examined 49 KBGS patients using advanced genetic testing to understand the syndrome better, revealing common traits like dental anomalies and skeletal issues alongside neurological concerns.
- - The findings suggest that clinicians should be aware of a broader range of symptoms, especially dental and palatal abnormalities, and include specific genetic testing for more accurate diagnosis and management of KBGS.
Rare diseases are an important population health issue and many promising therapies have been developed in recent years. In light of novel genetic treatments expected to significantly improve spinal muscular atrophy (SMA) patients' quality of life and the urgent need for SMA newborn screening (NBS), new epidemiological data were needed to implement SMA NBS in Estonia. We aimed to describe the birth prevalence of SMA in the years 1996-2020 and to compare the results with previously published data.
View Article and Find Full Text PDFX-linked intellectual disabilities (XLID) are common developmental disorders. The enzyme O-GlcNAc transferase encoded by OGT, a recently discovered XLID gene, attaches O-GlcNAc to nuclear and cytoplasmic proteins. As few missense mutations have been described, it is unclear what the aetiology of the patient phenotypes is.
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- 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.
Congenital disorders of glycosylation (CDG) are caused by defective glycosylation of proteins and lipids. PMM2-CDG is the most common subtype among the CDG. The severity of PMM2-CDG is variable.
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