A5034007749- Genomic variations and chromosomal abnormalities
- Prenatal Screening and Diagnostics
- Congenital heart defects research
- Genetics and Neurodevelopmental Disorders
- Chromosomal and Genetic Variations
- RNA modifications and cancer
- Hemoglobinopathies and Related Disorders
- Fetal and Pediatric Neurological Disorders
- Chromatin Remodeling and Cancer
- Genomics and Rare Diseases
- Congenital Anomalies and Fetal Surgery
- Erythrocyte Function and Pathophysiology
- Cardiomyopathy and Myosin Studies
- RNA and protein synthesis mechanisms
- Congenital Ear and Nasal Anomalies
- Cardiac Valve Diseases and Treatments
- Bone health and treatments
- Bone Tumor Diagnosis and Treatments
- Renal and related cancers
- Genomics and Chromatin Dynamics
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Autism Spectrum Disorder Research
- Assisted Reproductive Technology and Twin Pregnancy
- Oral and Maxillofacial Pathology
- Williams Syndrome Research
Cyprus Institute of Neurology and Genetics
2015-2025
The purpose of the study was application and evaluation array Comparative Genomic Hybridization (array CGH) in selected cases during prenatal diagnosis. Array CGH applied 25 fetal samples out which 15 had normal karyotypes abnormal ultrasound findings 10 apparently balanced structural aberrations with or without findings. DNA extracted from peripheral blood, chorionic villi (CV) amniotic fluid. Bacterial Artificial Chromosome (BAC) (Cytochip, BlueGnome Ltd.) 1 Mb results were confirmed...
Voltage-gated sodium channels (VGSCs) are responsible for the initiation and propagation of action potentials in brain muscle. Pathogenic variants genes encoding VGSCs have been associated with severe disorders including epileptic encephalopathies congenital myopathies. In this study, we identified pathogenic α subunit fetuses two unrelated families use trio-based whole exome sequencing, as part a larger cohort study. Sanger sequencing was performed variant confirmation well parental...
ABSTRACT Balanced chromosomal rearrangements (BCRs), including inversions, translocations, and insertions, reorganize large sections of the genome contribute substantial risk for developmental disorders (DDs). However, rarity lack systematic screening BCRs in population has precluded unbiased analyses genomic features mechanisms associated with DDs versus normal outcomes. Here, we sequenced analyzed 1,420 BCR breakpoints across 710 individuals, 406 DD cases first large-scale collection 304...
Abstract Background Hereditary multiple exostoses (HME) is an autosomal dominant skeletal disorder characterized by the development of multiple, circumscript and usually symmetric bony protuberances called osteochondromas. Most HME are caused EXT1 EXT2 loss function mutations. pathogenic mutations nonsense followed missense deletions. Case presentation Here we report on a patient with rare complex genotype resulting in typical phenotype. Initial point mutation screening genes Sanger...
Terminal deletions in the long arm of chromosome 1 result a postnatally recognizable disorder described as 1q43q44 deletion syndrome. The size and resulting phenotype varies among patients. However, some features are common patients chromosomal regions included deletions. In present case, ultrasonography at 22 weeks gestation revealed choroid plexus cysts (CPCs) single umbilical artery (SUA) therefore amniocentesis was performed. Chromosomal analysis possible terminal 1q high resolution...
We report on a 29-year-old Greek-Cypriot female with de novo 6.3 Mb distal 10q26.2q26.3 deletion. She had very mild neurocognitive phenotype near normal development and intellect. In addition, she certain distinctive features postural orthostatic tachycardia. review the relevant literature postulate that of her can be diagnostically relevant. This illustrates powerful diagnostic ability array-CGH in elucidation relatively phenotypes.
Pitt–Hopkins syndrome (PTHS; MIM #610954) is a rare neurodevelopmental disorder first described in 1978 (Pitt & Hopkins, 1978), with distinctive phenotype including facial dysmorphias, global developmental delay, severe intellectual disability, and hyperventilation episodes (Marangi Zollino, 2015; Sweatt, 2013; Whalen et al., 2012). PTHS has relatively short history of clinical genetic investigation: its rarity similarity to other well recognized syndromes hampered the efforts for deeper...
Abstract Hypertrophic cardiomyopathy (HCM) and restrictive (RCM) have significant phenotypic overlap a similar genetic background, both caused mainly by variants in sarcomeric genes. HCM is the most common cardiomyopathy, while RCM rare often underdiagnosed heart condition, with poor prognosis. This study focuses on large family four infants diagnosed fatal associated biventricular hypertrophy. Affected were found to be homozygous for NM_003280.3( TNNC1 ):c.23C>T(p.Ala8Val) variant....
Key Clinical Message We describe a female with Rett syndrome carrying rare de novo mosaic nonsense mutation on MECP 2 gene, random X‐chromosome inactivation. severity in females depends mosaicism level and tissue specificity, inactivation, epigenetics environment. should be considered both males females.
Familial apparently balanced translocations (ABTs) are usually not associated with a phenotype; however, rarely, ABTs segregate discordant phenotypes in family members carrying identical rearrangements. The current study was follow-up investigation of four familial ABTs, where whole exome sequencing (WES) implemented as diagnostic tool to identify the underlying genetic aetiology patients’ phenotypes. Data were analysed using an in-house bioinformatics pipeline alongside VarSome Clinical....
Thalassaemia is a potentially lethal inherited anaemia, caused by reduced or absent synthesis of globin chains. Measurement the minor adult haemoglobin Hb A2, combining α- with δ-globin, critical for routine diagnosis carrier status β-thalassaemia. Here, we aim to characterize novel δ-globin variant, A2 Episkopi, in single family mixed Lebanese and Cypriot ancestry mild hypochromic anaemia otherwise normal genotype, which also presents coincidental 0.78-Mb sequence duplication on chromosome...