Publications by authors named "I Fylaktou"
The development of high-throughput technologies has enabled Expanded Carrier screening (ECS) as a more comprehensive and extensive approach for high-risk populations. The available methods of ECS are population-targeted gene-panels according to ethnicity, however these panels should be planned according to a real-world data evaluation. In this study, we estimate the frequency of pathogenic variants for autosomal-recessive and X-linked conditions in Exome Sequencing-ES data for a 176 gene panel proposed from ACMG and ACOG in a Greek cohort.
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- This study focused on identifying genetic variants in 500 Greek individuals suspected of having 21-hydroxylase deficiency (21-OHD), a common form of congenital adrenal hyperplasia, by using gene sequencing and MLPA techniques.* -
- Genetic diagnoses were confirmed in 27.4% of the cases, with a notable portion of subjects displaying the non-classic form of 21-OHD, and 42.6% being heterozygotes; however, 27% exhibited no identifiable pathogenic variants.* -
- The study suggested that measuring the change in 17-hydroxyprogesterone levels post-ACTH stimulation might serve as a potential biomarker to differentiate heterozygotes from those without
Article Synopsis
- - Haemoglobinopathies are the most common genetic diseases, caused by various mutations in globin genes, complicating their analysis according to ACMG/AMP guidelines.
- - The study assesses 31 computational tools that predict the pathogenicity of 1627 variants, finding that CADD, Eigen-PC, and REVEL perform the best overall for different types of variants.
- - Additionally, SpliceAI excels in predicting splicing issues, while GERP++ and phyloP are top tools for evaluating genetic conservation, providing insights for the effective use of these resources.
Combined pituitary hormone deficiency (CPHD) is characterized by deficiency of growth hormone and at least one other pituitary hormone. Pathogenic variants in more than 30 genes expressed during the development of the head, hypothalamus, and/or pituitary have been identified so far to cause genetic forms of CPHD. However, the etiology of around 85% of the cases remains unknown.
View Article and Find Full Text PDFBackground: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder caused by pathogenic variants in seven genes involved in the cortisol and aldosterone biosynthetic pathway. The second most common cause, 11β-hydroxylase deficiency (11βOHD), is attributed to pathogenic variants in the CYP11B1 gene encoding for the enzyme 11β-hydroxylase (11βOH).
Case Presentation: A 13-year-old girl was referred to the pediatric endocrinologist due to a syncopal episode.