Franco Stanzial
A5009829226- Genetics and Neurodevelopmental Disorders
- Neurofibromatosis and Schwannoma Cases
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Sarcoma Diagnosis and Treatment
- Genetic and Kidney Cyst Diseases
- Gastrointestinal Tumor Research and Treatment
- Protein Tyrosine Phosphatases
- Autism Spectrum Disorder Research
- Retinal Development and Disorders
- Hedgehog Signaling Pathway Studies
- Genetic Syndromes and Imprinting
- RNA regulation and disease
- Galectins and Cancer Biology
- Connective tissue disorders research
- Connexins and lens biology
- Hereditary Neurological Disorders
- Congenital heart defects research
- Endoplasmic Reticulum Stress and Disease
- Craniofacial Disorders and Treatments
- Glaucoma and retinal disorders
- Protease and Inhibitor Mechanisms
- RNA modifications and cancer
- Cardiac tumors and thrombi
- Congenital Anomalies and Fetal Surgery
Ospedale di Bolzano
2016-2025
Hôpital régional
2023
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
2020
Biogem
2012
Women & Infants Hospital of Rhode Island
2003
Providence College
2003
Centro Nacional de Biotecnología
2003
University of Verona
1993-1994
Noonan, LEOPARD, and cardiofaciocutaneous syndromes (NS, LS, CFCS) are developmental disorders with overlapping features including distinctive facial dysmorphia, reduced growth, cardiac defects, skeletal ectodermal anomalies, variable cognitive deficits. Dysregulated RAS-mitogen-activated protein kinase (MAPK) signal traffic has been established to represent the molecular pathogenic cause underlying these conditions. To investigate phenotypic spectrum diversity of germline mutations...
Noonan syndrome (NS) is among the most common nonchromosomal disorders affecting development and growth. NS caused by aberrant RAS-MAPK signaling genetically heterogeneous, which explains, in part, marked clinical variability documented for this Mendelian trait. Recently, we others identified SOS1 as a major gene underlying NS. Here, explored further spectrum of mutations their associated phenotypic features. Mutation scanning entire coding sequence allowed identification 33 different...
Defective primary ciliogenesis or cilium stability forms the basis of human ciliopathies, including Joubert syndrome (JS), with defective cerebellar vermis development. We performed a high-content genome-wide small interfering RNA (siRNA) screen to identify genes regulating as candidates for JS. analyzed results supervised-learning approach, using SYSCILIA gold standard, Cildb3.0, centriole siRNA and GTex project, identifying 591 likely candidates. Intersection this data whole exome from 145...
The majority of gastrointestinal stromal tumors (GIST) are driven by KIT, PDGFRA, or, less commonly, BRAF mutations, and SDH gene inactivation is involved in a limited fraction gastric lesions. However, about 10% GISTs devoid any such alterations poorly responsive to standard treatments. This study aims shed light on the molecular drivers quadruple-negative GISTs.Twenty-two sporadic with no prior association Neurofibromatosis Type 1 syndrome were molecularly profiled for panel genes...
Marinesco-Sjögren syndrome is a rare autosomal recessive multisystem disorder featuring cerebellar ataxia, early-onset cataracts, chronic myopathy, variable intellectual disability and delayed motor development. More recently, mutations in the SIL1 gene, which encodes an endoplasmic reticulum resident co-chaperone, were identified as main cause of syndrome. Here we describe results mutation analysis 62 patients presenting with cataracts myopathy or combinations at least two these. We...
Hereditary spastic paraplegia (HSP) refers to a group of genetically heterogeneous neurodegenerative motor neuron disorders characterized by progressive age-dependent loss corticospinal tract function, lower limb spasticity, and weakness. Recent clinical use next generation sequencing (NGS) methodologies suggests that they facilitate the diagnostic approach HSP, but power NGS as first-tier procedure is unclear. The larger-than-expected genetic heterogeneity-there are over 80 potential...
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....
The purpose of this study was to clinically characterize patients with CNGA3-linked achromatopsia (CNGA3-ACHM) in preparation a gene therapy trial.Thirty-six (age 7-56 years) complete (cACHM) or incomplete (iACHM) CNGA3-ACHM were examined, including detailed psychophysical tests, extended electrophysiology, and assessment morphology by fundus autofluorescence spectral-domain optical coherence tomography (SD-OCT).Mean best-corrected visual acuity 0.78 ± 0.14 logMAR. Color vision tests...
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...
16q24 deletion involving the ANKRD11 gene, ranging from 137 kb to 2 Mb, have been associated with a microdeletion syndrome characterized by variable cognitive impairment, autism spectrum disorder, facial dysmorphisms dental anomalies, brain abnormalities essentially affecting corpus callosum and short stature. On other hand, patients carrying either deletions encompassing solely or its loss-of-function variants were reported in association KBG syndrome, very similar phenotype, including...
Abstract KBG syndrome (KBGS) is characterized by distinctive facial gestalt, short stature and variable clinical findings. With ageing, some features become more recognizable, allowing a differential diagnosis. We aimed to better characterize natural history of KBGS. In the context European collaborative study, we collected largest cohort KBGS patients (49). A combined array- based Comparative Genomic Hybridization next generation sequencing (NGS) approach investigated both genomic Copy...
Abstract Background The breadth of the clinical spectrum underlying Pelizaeus-Merzbacher disease and spastic paraplegia type 2 is due to extensive allelic heterogeneity in X-linked PLP1 gene encoding myelin proteolipid protein (PLP). mutations range from duplications variable size found 60-70% patients intragenic lesions present 15-20% patients. Methods Forty-eight male 38 unrelated families with a PLP1-related disorder were studied. All DNA samples screened for using real-time PCR....
Oral-facial-digital type VI syndrome (OFDVI) is a rare phenotype of Joubert (JS). Recently, C5orf42 was suggested as the major OFDVI gene, being mutated in 9 11 families (82 %). We sequenced 313 JS probands and identified mutations 28 (8.9 %), most with pure JS. Only 2 out 17 patients (11.7 %) were mutated. A comparison vs. non-mutated showed that preaxial mesoaxial polydactyly, hypothalamic hamartoma other congenital defects may predict mutations, while tongue hamartomas are more common...
Abstract Dominant mutations in the receptor calcium channel gene TRPV4 have been associated with a family of skeletal dysplasias (metatropic dysplasia, pseudo‐Morquio type 2, spondylometaphyseal Kozlowski type, brachyolmia, and familial digital arthropathy) as well dominantly inherited neuropathies (hereditary motor sensory neuropathy 2C, scapuloperoneal spinal muscular atrophy, congenital distal atrophy). While there is phenotypic overlap between various members each group, two groups were...
Sandhoff disease (SD) is a lysosomal disorder caused by mutations in the HEXB gene. To date, 43 of have been described, including 3 large deletions. Here, we characterized 14 unrelated SD patients and developed Multiplex Ligation-dependent Probe Amplification (MLPA) assay to investigate presence Overall, identified 16 alleles, 9 which were novel, 4 sequence variation leading aminoacid changes [c.626C>T (p.T209I), c.634C>A (p.H212N), c.926G>T (p.C309F), c.1451G>A (p.G484E)] intronic...
NSD1 point mutations, submicroscopic deletions and intragenic are the major cause of Sotos syndrome, characterized by pre‐postnatal generalized overgrowth with advanced bone age, learning disability, seizures, distinctive facial phenotype. Reverse clinical phenotype due to 5q35 microduplication encompassing gene has been reported so far in 27 cases presenting delayed microcephaly, failure thrive seizures some cases, further supporting a dosage effect on growth regulation neurological...
Abstract Background Hyaline fibromatosis syndrome is an autosomal recessive disease caused by mutations in ANTXR2 which leads to loss of function the transmembrane protein anthrax toxin receptor 2. It distinguished characteristic skin lesions, gingival hyperplasia, joint and bone disease, systemic involvement. Methods Based on case 11‐year‐old female patient with typical features hyaline underlying pathogenic compound heterozygote variants we discuss genetic clinical aspects syndrome....
Oculo-auriculo-vertebral spectrum (OAVS) is a developmental disorder of craniofacial morphogenesis. Its etiology unclear, but assumed to be complex and heterogeneous, with contribution both genetic environmental factors. We assessed the occurrence copy number variants (CNVs) in cohort 19 unrelated OAVS individuals congenital heart defect. Chromosomal microarray analysis identified pathogenic CNVs 2/19 (10.5%) individuals, classified as uncertain significance 7/19 (36.9%) individuals....
Joubert syndrome (JS) is a neurodevelopmental ciliopathy characterised by distinctive mid-hindbrain malformation, the 'molar tooth sign'. Over 40 JS-associated genes are known, accounting for two-thirds of cases.While most variants novel or extremely rare, we report on 11 recurring in seven genes, including three known 'founder variants' Ashkenazi Jewish, Hutterite and Finnish populations. We evaluated variant frequencies ~550 European patients with JS compared them controls (>15 000 Italian...