Flavio Faletra
A5086073551- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Hearing, Cochlea, Tinnitus, Genetics
- Immunodeficiency and Autoimmune Disorders
- Cell Adhesion Molecules Research
- Connexins and lens biology
- Congenital heart defects research
- RNA regulation and disease
- Parvovirus B19 Infection Studies
- Connective tissue disorders research
- Prenatal Screening and Diagnostics
- RNA Research and Splicing
- RNA modifications and cancer
- Neurogenetic and Muscular Disorders Research
- Congenital Ear and Nasal Anomalies
- Blood disorders and treatments
- Genetic Syndromes and Imprinting
- Platelet Disorders and Treatments
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Metabolism and Genetic Disorders
- Folate and B Vitamins Research
- Congenital limb and hand anomalies
- Protein Tyrosine Phosphatases
- Epilepsy research and treatment
Ospedale Santa Maria della Misericordia di Udine
2024-2025
University of Udine
2024-2025
IRCCS Materno Infantile Burlo Garofolo
2015-2024
University of Turin
2020
IRCCS Eugenio Medea
2017
University of Trieste
2008-2015
Microbial nucleic acid recognition serves as the major stimulus to an antiviral response, implying a requirement limit misrepresentation of self acids non-self and induction autoinflammation. By systematic screening using panel interferon-stimulated genes we identify two siblings singleton variably demonstrating severe neonatal anemia, membranoproliferative glomerulonephritis, liver fibrosis, deforming arthropathy increased anti-DNA antibodies. In both families biallelic mutations in DNASE2,...
Abstract Stickler syndrome (STL) is a clinically variable and genetically heterogeneous characterized by ophthalmic, articular, orofacial, auditory manifestations. STL has been described with both autosomal dominant recessive inheritance. The form caused mutations of COL2A1 (STL 1, OMIM 108300), COL11A1 2, 604841), COL11A2 3, 184840) genes, while forms have associated COL9A1 (OMIM 120210) COL9A2 120260) genes. Type IX collagen heterotrimeric molecule formed three distinct chains: α1, α2, α3...
SRSF1 (also known as ASF/SF2) is a non-small nuclear ribonucleoprotein (non-snRNP) that belongs to the arginine/serine (R/S) domain family. It recognizes and binds mRNA, regulating both constitutive alternative splicing. The complete loss of this proto-oncogene in mice embryonically lethal. Through international data sharing, we identified 17 individuals (10 females 7 males) with neurodevelopmental disorder (NDD) heterozygous germline variants, mostly de novo, including three frameshift...
Phenotypic and genotypic heterogeneity in congenital ocular diseases, especially anterior segment dysgenesis (ASD), have created challenges for proper diagnosis classification of diseases. Over the last decade, genomic research has indeed boosted our understanding molecular basis ASD genes associated with both autosomal dominant recessive patterns inheritance been described a wide range expressivity. Here we describe characterization cohort 162 patients displaying isolated or syndromic...
Aims Presence of family cases and multiple recurrences pericarditis suggest the existence a possible genetic background in at least 10% cases. The aim present study is to describe landscape cohort patients with (at two recurrences). Methods Retrospective consecutive adult referred for episodes tertiary referral centre. Genetic testing was performed by whole exome sequencing (WES). Results Our included 108 recurrent [median age 32 years, interquartile range (IQR) 18.5; 67.6% females, all...
A subset of patients with KIT/PDGFRA wild-type gastrointestinal stromal tumors show loss function succinate dehydrogenase, mostly due to germ-line mutations dehydrogenase subunits, a predominance subunit A. The clinical outcome these seems favorable, as reported in small series which were individually described. This work evaluates retrospective survival analysis metastatic dehydrogenase-deficient tumors.Sixty-nine included the study (11 wild-type, whom 6 deficient, 5 non-succinate and 58...
Abstract Context 4H or POLR3-related leukodystrophy is an autosomal recessive disorder typically characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism, caused biallelic pathogenic variants in POLR3A, POLR3B, POLR1C, POLR3K. The endocrine growth abnormalities associated with this have not been thoroughly investigated to date. Objective To systematically characterize of patients leukodystrophy. Design An international cross-sectional study was performed on 150...
Introduction: Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common inherited disorders in humans and majority patients carry a variant either PKD1 or PKD2. Genetic testing increasingly required for diagnosis, prognosis treatment decision, but it challenging due to segmental duplications PKD1, genetic allelic heterogeneity, presence many variants hypomorphic uncertain significance. We propose an NGS-based strategy molecular analysis ADPKD its phenocopies, validated...
ABSTRACT In 2016, Sifrim and colleagues described the first group of patients carrying heterozygous pathogenic variants in CDK13 sharing major clinical features mainly consisting congenital heart defects, intellectual disability peculiar facial (Congenital Heart Defects, Dysmorphic Facial Features, Intellectual Developmental Disorder; CHDFIDD, OMIM # 617360). This condition is generally referred to as ‐related disorder, since then other reports have provided further molecular information....
The identification of causes underlying intellectual disability (ID) is one the most demanding challenges for clinical Geneticists and Researchers. Despite molecular diagnostics improvements, vast majority patients still remain without genetic diagnosis. Here, we report results obtained using Whole Exome Target Sequencing on nine affected by isolated ID pathological copy number variations, which were accurately selected from an initial cohort 236 patients. Three patterns inheritance used to...
Abstract Autosomal recessive osteopetrosis (ARO) is a rare genetic bone disease with genotypic and phenotypic heterogeneity, sometimes translating into delayed diagnosis treatment. In particular, cases of intermediate severity often constitute diagnostic challenge represent good candidates for exome sequencing. Here, we describe the tortuous path to identification molecular defect in two siblings, which diagnosed early childhood followed milder course, allowing them reach adult age...
Tissue-specific integrative omics has the potential to reveal new genic elements important for developmental disorders. Two pediatric patients with global delay and intellectual disability phenotype underwent array-CGH genetic testing, both showing a partial deletion of DLG2 gene. From independent human murine datasets, we combined copy number variations, histone modifications, tissue-specific regulation, protein data explore molecular mechanism at play. Integrating genomics,...
Hereditary hearing loss (HHL) is a common disorder characterized by huge genetic heterogeneity. The definition of correct molecular diagnosis essential for proper counseling, recurrence risk estimation, and therapeutic options. From 20 to 40% patients carry mutations in GJB2 gene, thus, more than half cases it necessary look causative variants the other genes so far identified (~100). In this light, use next-generation sequencing technologies has proved be best solution mutational screening,...
Poirier-Bienvenu Neurodevelopmental Syndrome (POBINDS) is a rare disease linked to mutations of the CSNK2B gene, which encodes for subunit caseinkinase CK2 involved in neuronal growth and synaptic transmission. Its main features include early-onset epilepsy intellectual disability. Despite lack cases described, it appears that POBINDS could manifest with wide range phenotypes, possibly related different CSNK2B. Our multicentric, retrospective study recruited nine patients POBINDS, detected...