A5078235301- Genetics and Neurodevelopmental Disorders
- Autism Spectrum Disorder Research
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Hearing, Cochlea, Tinnitus, Genetics
- Cancer, Hypoxia, and Metabolism
- Congenital heart defects research
- Connexins and lens biology
- Advanced Radiotherapy Techniques
- Neurofibromatosis and Schwannoma Cases
- RNA modifications and cancer
- Epigenetics and DNA Methylation
- Vestibular and auditory disorders
- Hormonal Regulation and Hypertension
- RNA and protein synthesis mechanisms
- Genetic Syndromes and Imprinting
- RNA regulation and disease
- Neuroblastoma Research and Treatments
- Epilepsy research and treatment
- Metabolism and Genetic Disorders
- Prostate Cancer Diagnosis and Treatment
- Adrenal and Paraganglionic Tumors
- Fetal and Pediatric Neurological Disorders
- Neuroscience of respiration and sleep
- Sarcoma Diagnosis and Treatment
University of Padua
2016-2025
Città della Speranza Foundation
2019-2025
University of Cagliari
2020
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
2020
Policlinico Tor Vergata
2012-2018
Azienda Ospedaliero-Universitaria Cagliari
2018
Istituto Oncologico Veneto
2016
University of Rome Tor Vergata
2013-2016
Ospedale Sant Antonio
2016
Laboratory of Molecular Genetics
2014
The presence of AGG interruptions in the CGG repeat locus fragile X mental retardation 1 (FMR1) gene decreases instability allele during transmission from parent to child, and risk expansion a premutation full mutation (the predominant cause syndrome) maternal transmission.To strengthen recent findings on utility predicting or FMR1 alleles, we assessed outcomes 108 intermediate (also named gray zone) 710 alleles that were transmitted collected four international clinical sites. We have used...
Neural differentiation, synaptic transmission, and action potential propagation depend on membrane sphingolipids, whose metabolism is tightly regulated. Mutations in the ceramide transporter CERT (CERT1), which involved sphingolipid biosynthesis, are associated with intellectual disability, but pathogenic mechanism remains obscure. Here, we characterize 31 individuals de novo missense variants CERT1. Several fall into a previously uncharacterized dimeric helical domain that enables...
To identify predictive factors of radiation-induced skin toxicity in breast cancer patients by the analysis dosimetric and clinical factors.339 treated between January 2007 December 2010 are included present analysis. Whole irradiation was delivered with Conventional Fractionation (CF) (50 Gy, 2.0/day, 25 fractions) moderate Hypofractionated Schedule (HS) (44 2.75 Gy/day, 16 followed tumour bed boost. The impact patient features, systemic treatments and, particular, dose inhomogeneities on...
Intellectual disability (ID) and autism spectrum disorder (ASD) are clinically genetically heterogeneous diseases. Recent whole exome sequencing studies indicated that genes associated with different neurological diseases shared across disorders converge on common functional pathways. Using the Ion Torrent platform, we developed a low-cost next-generation gene panel has been transferred into clinical practice, replacing single disease-gene analyses for early diagnosis of individuals ID/ASD....
Eleven affected members of a large German-American family segregating recessively inherited, congenital, non-syndromic sensorineural hearing loss (SNHL) were found to be homozygous for the common 35delG mutation GJB2, gene encoding gap junction protein Connexin 26. Surprisingly, four additional with bilateral profound SNHL carried only single mutation. Previously, we demonstrated reduced expression both GJB2 and GJB6 mRNA from allele in trans that bearing these persons. Using array...
<h3>Importance</h3> Newborn screening for Angelman syndrome (AS), Prader-Willi (PWS), and chromosome 15 duplication (Dup15q) may lead to benefit from early diagnosis treatment. <h3>Objective</h3> To examine the feasibility of newborn these imprinting disorders at population scale. <h3>Design, Setting, Participants</h3> In this diagnostic study, validation data set first-tier<i>SNRPN</i>test, called methylation-specific quantitative melt analysis (MS-QMA), included 109 PWS, 48 AS, 9 Dup15q,...
Fragile X syndrome (FXS) is a genetic neurodevelopmental disorder that causes range of developmental problems including cognitive and behavioral impairment learning disabilities. FXS caused by full mutations (FM) the FMR1 gene expansions to over 200 repeats, with hypermethylation cytosine–guanine–guanine (CGG) tandem repeated region in its promoter, resulting transcriptional silencing loss function. Female carriers FM are typically less impaired than males. The Activation Ratio (AR),...
Abstract Neurodevelopmental disorders (NDDs) are common conditions including clinically diverse and genetically heterogeneous diseases, such as intellectual disability, autism spectrum disorders, epilepsy. The intricate genetic underpinnings of NDDs pose a formidable challenge, given their multifaceted architecture clinical presentations. This work delves into the interplay between variants phenotypic manifestations in neurodevelopmental presenting dataset curated for Critical Assessment...
Auditory neuropathy is characterized by abnormal neural conduction in the auditory pathway despite normal outer hair cell function, exhibiting substantial genetic heterogeneity and phenotypic variability. We report case of a 29-year-old male patient with hearing loss, bilateral enlargement vestibular aqueduct (EVA), system dysfunction. Based on these features, which are tipically indicative Pendred syndrome, molecular investigation including SLC26A4 gene was performed. This analysis...
Although many studies have been published about specific lesions characterizing von Hippel-Lindau(VHL) disease, none dealt with the natural history of whole disease and consequent disabilities. We aim to define comprehensive VHL describe functional disabilities their impact upon patients' quality life, thereby tailoring follow-up schedule accordingly. performed a prospective analysis on 128 VHL-affected patients beginning in 1996. For each affected organ, we defined intervals between first...
Abstract Fragile X syndrome (FXS) is the most common monogenic cause of inherited intellectual and developmental disabilities. Mavoglurant, a selective metabotropic glutamate receptor subtype-5 antagonist, has shown positive neuronal behavioral effects in preclinical studies, but failed to demonstrate any benefits two 12-week, randomized, placebo-controlled, double-blind, phase IIb studies adults adolescents with FXS. Here we report long-term safety (primary endpoint) efficacy (secondary...
von Hippel-Lindau (VHL) disease is an autosomal dominant familial cancer syndrome predisposing to the development of retinal and central nervous system haemangioblastomas, pheochromocytomas, renal pancreatic cancer. In course a molecular analysis conducted detect germline mutations this gene in patients individuals affected by sporadic tumors, we have identified case somatic mosaicism asymptomatic mother VHL patient who was subsequently diagnosed with pheochromocytoma. This first report...
Abstract Background Genomics enables individualized diagnosis and treatment, but large challenges remain to functionally interpret rare variants. To date, only one causative variant has been described for KCNK9 imprinting syndrome (KIS). The genotypic phenotypic spectrum of KIS yet be the precise mechanism disease fully understood. Methods This study discovers mechanisms underlying (KIS) by describing 15 novel alterations from 47 KIS-affected individuals. We use clinical genetics...
Abstract Mutations of the cyclin‐dependent kinase‐like 5 gene ( CDKL5 ), reported almost exclusively in female subjects, have been recently found to be cause a phenotype overlapping Rett syndrome with early‐onset epileptic encephalopathy. We describe first mutation detected male individual 47,XXY karyotype. This previously unreported, de novo , truncates large COOH‐terminal region, thought crucial for proper sub‐cellular localization protein. The resulting is characterized by severe...
The authors describe two unrelated individuals with fragile X syndrome (FXS) due to marked expansion and instability of the CGG trinucleotide repeats within mental retardation 1 gene (<i>FMR1</i>) periventricular heterotopia (PH). This observation suggests that <i>FMR1</i> is involved in neuronal migration abnormal migration, even beyond resolution MRI, contributes neurologic phenotype FXS.