Stefania Bigoni
A5008065294- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Autism Spectrum Disorder Research
- Congenital heart defects research
- RNA regulation and disease
- RNA modifications and cancer
- Congenital gastrointestinal and neural anomalies
- Genetic Syndromes and Imprinting
- Prenatal Screening and Diagnostics
- Congenital Ear and Nasal Anomalies
- Hereditary Neurological Disorders
- Epilepsy research and treatment
- Intestinal Malrotation and Obstruction Disorders
- Chromatin Remodeling and Cancer
- Sexual Differentiation and Disorders
- Neurological diseases and metabolism
- Hearing, Cochlea, Tinnitus, Genetics
- Neurofibromatosis and Schwannoma Cases
- Cancer and Skin Lesions
- Connective tissue disorders research
- Cellular transport and secretion
- Family and Disability Support Research
- Cell Adhesion Molecules Research
- Systemic Sclerosis and Related Diseases
University of Ferrara
2016-2025
Marche Polytechnic University
2023-2024
Anna University, Chennai
2022
University of Southern Denmark
2021
Maastricht University
2021
Kempenhaeghe
2021
Filadelfia
2021
Arcispedale Sant'Anna
2014-2020
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
2020
Ospedale Sant'Anna
2019
De novo germline variants in several components of the SWI/SNF-like BAF complex can cause Coffin-Siris syndrome (CSS), Nicolaides-Baraitser (NCBRS), and nonsyndromic intellectual disability. We screened 63 patients with a clinical diagnosis CSS for these genes (ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCE1) identified pathogenic 45 (71%) patients. found high proportion ARID1B (68%). All four ARID1A appeared to be mosaic. By using all from Exome Variant Server as test data, we were able...
In this study, we used deletions at 22q13, which represent a substantial source of human pathology (Phelan/McDermid syndrome), as model for investigating the molecular mechanisms terminal that are currently poorly understood. We characterized level genomic rearrangement in 44 unrelated patients with 22q13 monosomy resulting from simple (72%), ring chromosomes (14%), and unbalanced translocations (7%). also discovered interstitial between 17–74 kb 9% patients. Haploinsufficiency SHANK3 gene,...
Targeted resequencing gene panels are used in the diagnostic setting to identify defects epilepsy. We performed targeted using a 30-genes panel and 95-genes 349 patients with drug-resistant epilepsies beginning first years of life. identified 71 pathogenic variants, 42 which novel, 30 genes, corresponding 20.3% probands. In 66% mutation positive patients, epilepsy onset occurred before age 6 months. The allowed genetic diagnosis 22 (6.3%) that would have otherwise been missed 30-gene panel....
Mowat-Wilson syndrome (MWS) is a rare intellectual disability/multiple congenital anomalies caused by heterozygous mutation of the ZEB2 gene. It generally underestimated because its rarity and phenotypic variability sometimes make it difficult to recognize. Here, we aimed better delineate phenotype, natural history, genotype-phenotype correlations MWS.In collaborative study, analyzed clinical data for 87 patients with molecularly confirmed diagnosis. We described prevalence all aspects,...
Abstract Constitutional heterozygous mutations of ATP1A2 and ATP1A3, encoding for two distinct isoforms the Na+/K+-ATPase (NKA) alpha-subunit, have been associated with familial hemiplegic migraine (ATP1A2), alternating hemiplegia childhood (ATP1A2/A3), rapid-onset dystonia-parkinsonism, cerebellar ataxia-areflexia-progressive optic atrophy, relapsing encephalopathy ataxia (all ATP1A3). A few reports described single individuals ATP1A2/A3 severe epilepsies. Early lethal hydrops fetalis,...
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....
Rett Syndrome (RTT) is a severe neurodevelopmental disorder characterized by an apparently normal development followed arrest and subsequent regression of cognitive psychomotor abilities. At present, RTT has no definitive cure the treatment represents largely unmet clinical need. Following partial elucidation underlying neurobiology RTT, new been proposed, Mecasermin (recombinant human Insulin-Like Growth Factor 1), which, in addition to impressive evidence from preclinical murine models...
Purine-rich element-binding protein A (PURA) gene encodes Pur-α, a conserved essential for normal postnatal brain development. Recently, PURA syndrome characterized by intellectual disability, hypotonia, epilepsy, and dysmorphic features was suggested. The aim of this study to define expand the phenotypic spectrum collecting data, including EEG, from large cohort affected patients. Data on unpublished published cases were collected through Syndrome Foundation literature. clinical, genetic,...
COL4A1/2 variants are associated with highly variable multiorgan manifestations. Depicting the whole clinical spectrum of COL4A1/2-related manifestations is challenging, and there no consensus on management preventative strategies. Based a systematic review current evidence disease, we developed questionnaire that administered to 43 individuals from 23 distinct families carrying pathogenic variants. In this cohort, extended ophthalmological cardiological examinations asymptomatic those only...
Sickle cell disease is the commonest haemoglobinopathy in Africa, Middle East and India. In recent years, its incidence has increased dramatically also Europe North America because of high rate migration people from endemic areas. From January 2009 to 2010 number foreign residents province Ferrara (Italy) by 12.2%: most immigrants were countries at risk sickle disease. Since neonatal screening prophylactic penicillin early childhood could reduce mortality 10 years age less than 2%, aim this...
Rett Syndrome is a neurodevelopmental disorder almost exclusively affecting females, characterized by broad clinical spectrum of signs and symptoms peculiar course. The disease affects different body systems: nervous, muscolo-skeletal, gastro-enteric. Moreover, part the are related to involvement autonomic nervous system. In Tuscany Center at Versilia Hospital, we collected data from 151 subjects with diagnosis classical or variant RTT syndrome. For each subject, assessed severity condition...
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...
Rett syndrome (RTT) is a rare X-linked dominant neurodevelopmental disorder caused by pathogenic variants in the methyl-CpG-binding protein 2 (MECP2) gene, which encodes (MeCP2) that acts as repressor of gene expression, crucial neurons. Dysfunction MeCP2 due to its explains clinical features RTT. Here, we performed histological and RNA analyses on post-mortem brain sample from an RTT patient carrying p.Arg106Trp missense mutation. This part cohort 56 genetically clinically characterized...
Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting almost exclusively females. The Hanefeld variant, or early-onset seizure has been associated with mutations in CDKL5 gene. <b>Aims</b> In recent years more than 60 patients the gene have described literature, but cardiorespiratory phenotype not reported. Our aim to describe clinical and autonomic features of these girls. <b>Methods</b> 10 girls diagnosis variant evaluated on axiological aspects. all subjects an evaluation...
Incontinentia pigmenti (IP; Online Mendelian Inheritance in Man catalog #308300) is an X-linked dominant ectodermal disorder caused by mutations of the inhibitor κ polypeptide gene enchancer B cells, kinase γ (IKBKG)/ nuclear factor κB, essential modulator (NEMO) gene. Hemizygous IKBKG/NEMO loss-of-function (LoF) are lethal males, thus patients female, and disease always transmitted from IP-affected mother to her daughter. We present 2 families with father-to-daughter transmission IP provide...
Abstract The extensive clinical and genetic heterogeneity of congenital limb malformation calls for comprehensive genome-wide analysis variation. Genome sequencing (GS) has the potential to identify all variants. Here we aim determine diagnostic GS as a one-test-for-all strategy in cohort undiagnosed patients with malformations. We collected 69 cases (64 trios, 1 duo, 5 singletons) malformations no molecular diagnosis after standard testing performed genome sequencing. also developed...
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...
Hearing loss is the most frequent sensorineural disorder, affecting approximately 1:1000 newborns. Hereditary forms (HHL) represent 50-60% of cases, highlighting relevance genetic testing in deaf patients. HHL classified as non-syndromic (NSHL-70% cases) or syndromic (SHL-30% cases). In this study, a multistep and integrative approach aimed at identifying molecular cause 102 patients, whose GJB2 analysis already showed negative result, described. NSHL multiplex ligation probe amplification...
Mowat–Wilson syndrome (MWS) is characterized by moderate to severe intellectual disability and distinctive facial features in association with variable structural congenital anomalies/clinical including heart disease, Hirschsprung hypospadias, agenesis of the corpus callosum, short stature, epilepsy, microcephaly. Less common clinical include ocular anomalies, craniosynostosis, mild disability, choanal atresia. These cases may be more difficult diagnose. In this report, we add 28 MWS...
We here report the case of a 36 years-old patient with diagnosis de novo mutation WDR45 gene, responsible for Beta-Propeller Protein-Associated Neurodegeneration (BPAN), phenotypically distinct, X-linked dominant form NBIA (Neurodegenerative Brain Iron Accumulation). The clinical history is characterized by relatively stable intellectual disability and hypo-bradykinetic hypertonic syndrome juvenile onset. Genetic investigations T1 T2 weighted MR images align what described in literature. was...
Rett Syndrome (RTT) is a complex neurodevelopmental disorder, frequently associated with epilepsy. Despite increasing recognition of the clinical heterogeneity RTT and its variants (e.g Classical, Hanefeld PSV(Preserved Speech Variant)), link between causative mutations observed phenotypes remains unclear. Quantitative analysis electroencephalogram (EEG) recordings may further elucidate important differences different genetic forms RTT. Using large cohort (n = 42) patients, we analysed...
Kenny-Caffey Syndrome (KCS) is a genetic syndrome characterized by growth retardation with short stature, cortical thickening and medullary stenosis of long bones, hypoparathyroidism hypocalcemia. KCS the related but more severe condition osteocraniostenosis are determined monoallelic variants in FAM111A gene. Here we describe phenotype resulting from variant p.Y511H 31-year-old woman her 56-year-old mother, who one oldest affected individuals known so far. To our knowledge, it also few...