Publications by authors named "Jorge E Kolomenski"
Congenital anomalies (CA) affect 3-5% of newborns, representing the second-leading cause of infant mortality in Argentina. Multiple congenital anomalies (MCA) have a prevalence of 2.26/1000 births in newborns, while congenital heart diseases (CHD) are the most frequent CA with a prevalence of 4.
View Article and Find Full Text PDFNKX2-5 is a homeodomain transcription factor that plays a crucial role in heart development. It is the first gene where a single genetic variant (GV) was found to be associated with congenital heart diseases in humans. In this study, we carried out a comprehensive survey of NKX2-5 GVs to build a unified, curated, and updated compilation of all available GVs.
View Article and Find Full Text PDFArticle Synopsis
- 21-hydroxylase deficiency is a leading cause of Congenital Adrenal Hyperplasia and presents in classical (severe) and nonclassical (mild) forms, with different genetic variants affecting patients across populations.
- This study examined the CYP21A2 gene defects in a large group of 628 Argentine patients, detailing genetic variations and their frequency among classical and nonclassical forms, while also analyzing family members and partners.
- Key findings highlighted the frequent variants identified, the correlation between genotype and clinical manifestations, and the identification of rare and novel mutations, contributing to a better understanding of this condition in the studied population.
Article Synopsis
- Over 95% of CAH cases are related to steroid 21-hydroxylation issues, which range in severity from classical forms to mild late-onset types.
- The researchers collected 1,340 genetic variants of the CYP21A2 gene, identifying 899 unique variants, 230 of which impact health, and created a database to aid in genetic counseling for affected families.