A5039613726- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Congenital heart defects research
- Genetic Syndromes and Imprinting
- RNA Research and Splicing
- Galectins and Cancer Biology
- Genetic and Kidney Cyst Diseases
- Fetal and Pediatric Neurological Disorders
- RNA modifications and cancer
- Chronic Lymphocytic Leukemia Research
- Cancer-related molecular mechanisms research
- MicroRNA in disease regulation
- RNA Interference and Gene Delivery
- Circular RNAs in diseases
- Bacteriophages and microbial interactions
- Pluripotent Stem Cells Research
- Genomics and Rare Diseases
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Cystic Fibrosis Research Advances
- Cellular Mechanics and Interactions
- Neurogenetic and Muscular Disorders Research
- Congenital Heart Disease Studies
- Prenatal Screening and Diagnostics
- Amyotrophic Lateral Sclerosis Research
- Genetic Neurodegenerative Diseases
Casa Sollievo della Sofferenza
2018-2025
Istituti di Ricovero e Cura a Carattere Scientifico
2018-2025
Sapienza University of Rome
2004-2007
The role of copy number variants as genomic mutations causative neurodevelopmental disorders has been recently established. They can act risk factors conditions with multifactorial etiopathogenesis and incomplete penetrance, such nonsyndromic autism, and, in this case, are often inherited from an unaffected parent. Conversely, dominant syndromes, high be caused by de novo occurring variants. We describe the clinical a detailed characterization neuropsychiatric profile, almost 3-year-old...
Primary Ciliary Dyskinesia (PCD) is a rare genetic disorder characterized by abnormalities in the motile cilia. Diagnosis could be hard to make, but analysis important for diagnosis and defining prognosis. To evaluate clinical, ultrastructural, molecular characteristics of cohort PCD subjects. The study included patients enrolled two Italian centers. Clinical data were retrospectively collected consulting medical records. All underwent nasal brushing peripheral blood sampling ultrastructural...
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....
Dentato-Rubral-pallidoluysian atrophy (DRPLA) is a rare autosomal, dominant, progressive neurodegenerative disease that causes involuntary movements, mental and emotional problems. DRPLA caused by mutation in the ATN1 gene encodes for an abnormal polyglutamine stretch atrophin-1 protein. most common Japanese population, where it has estimated incidence of 2 to 7 per million people. This condition also been seen families from North America Europe. We obtained reprogrammed iPSC line Caucasian...
Mosaic genome-wide paternal uniparental disomy (GWpUPD) is a rare condition in which two euploid cell lines coexist the same individual, one with biparental content and isodisomy. We report complex prenatal diagnosis discordant results from cultured uncultured samples. A pregnant woman was referred for placental mesenchymal dysplasia fetal omphalocele. Karyotype, array-CGH Beckwith-Wiedemann Syndrome (BWS) testing (methylation-specific multiplex ligation-dependent probe amplification...
Pseudo-anodontia consists in the clinical, not radiographic, absence of teeth, due to failure their eruption. It has been reported as part an extremely rare syndrome, named GAPO syndrome. Pseudo-hypoparathyroidism type 1a (PHPT-1a) is a condition, characterized by resistance parathyroid hormone (PTH), well many other hormones, and resulting hypocalcemia, hyperphosphatemia, elevated PTH. We report here case 32-year-old woman with long-standing history non-treated context undiagnosed PHPT-1a....
CHRNA7, encoding the neuronal alpha7 nicotinic acetylcholine receptor (a7nAChR), is highly expressed in brain, particularly hippocampus. It situated 15q13.3 chromosome region, frequently associated with a Copy Number Variation (CNV), which causes its duplication or deletion. The clinical significance of CHRNA7 duplications unknown so far, but there are several research data suggesting that they may be pathogenic, reduced penetrance. We have produced an iPS cell line from single healthy...
The clinical significance of Xp22.31 microduplication is still unclear. We describe a family in which mother and two children have associated with different forms epilepsy epileptiform EEG abnormalities. proband had benign centrotemporal spikes dysgraphia dyscalculia (IQ 72), the sister juvenile myoclonic epilepsy, both bilateral talipes anomalies. mother, who was carrier microduplication, asymptomatic. asymptomatic father did not possess microduplication. These data contribute to delineate...
Among the known causative genes of familial ALS, SOD1mutation is one most common. It encodes for ubiquitous detoxifying copper/zinc binding SOD1 enzyme, whose mutations selectively cause motor neuron death, although mechanisms are not as yet clear. What that mutant-mediated toxicity caused by loss its activity but a gain-of-function. In order to better understand pathogenic mutation, human induced pluripotent stem cell (hiPSC) line was generated from somatic cells female patient carrying...
NONO (Non-Pou Domain-Containing Octamer-Binding Protein) gene maps on chromosome Xq13.1 and hemizygous loss-of-function nucleotide variants are associated with an emerging syndromic form of intellectual developmental disorder (MRXS34; MIM #300967), characterized by delay, disability, poor language, dysmorphic facial features, microcephaly. Structural brain malformation, such as corpus callosum cerebellar abnormalities, heart defects, in particular left ventricular non-compaction (LVNC),...
Joubert Syndrome (JS) is a rare autosomal recessive or X-linked condition characterized by peculiar cerebellar malformation, known as the molar tooth sign (MTS), associated with other neurological phenotypes and multiorgan involvement. JS ciliopathy, spectrum of disorders whose causative genes encode proteins involved in primary cilium apparatus. In order to elucidate ciliopathy-associated molecular mechanisms, human induced pluripotent stem cells (hiPSCs) were derived from patient affected...
UPD(16)mat is a rare genetic condition characterized by intrauterine growth deficiency and multiple congenital malformations. To the best of our knowledge, neurodevelopmental disorders have never been described in association with UPD(16)mat, nor comprehensive neuropsychological profile child has delineated. We present young patient diagnosed provide clinical description, neurodevelopmental, neurological assessment. Neuropsychological examination included global neurodevelopment intelligence...
ABSTRACT Junctional epidermolysis bullosa (JEB) is a rare genodermatosis characterized by fragility of the skin and mucous membranes due to alterations in dermal epidermal junction. This condition manifests as mechanically induced bullous lesions that heal with hypertrophic granulation tissue and/or atrophic scars. Here, we report two brothers carrying homozygous LAMB3 missense variant, p.Gly254Asp, which affects N‐terminal end laminin‐332 (LM332) β3 chain, previously described another JEB...
Fibrillin proteins are extracellular matrix glycoproteins assembling into microfibrils. FBN1, FBN2, and FBN3 encode the human fibrillins mutations in FBN1 FBN2 cause connective tissue disorders called fibrillinopathies, affecting cardiovascular, dermal, skeletal, ocular tissues. Recently, of less characterized fibrillin family member, FBN3, have been associated a single with Bardet-Biedl syndrome (BBS). Here, we report on patient born from two first cousins affected by developmental delay,...
Abstract Interstitial 8p deletions were previously described, in literature and databases, approximately 30 patients with neurodevelopmental disorders. We report on a novel patient 8p21.2p11.21 deletion presenting clinical phenotype that includes severe intellectual disability, microcephaly, epilepsy, autism, the latter having been rarely associated this genetic defect.
Long non-coding RNAs (lncRNAs), defined as transcripts of ≥200 nucleotides not translated into protein, have been involved in a wide range regulatory functions. Their dysregulations associated with diverse pathological conditions such cancer, schizophrenia, Parkinson’s, Huntington’s, Alzheimer’s diseases and Neurodevelopmental Disorders (NDDs), including autism spectrum disorders (ASDs). We report on the case five-year-old child global developmental delay carrying de novo microduplication...
Reported here is a novel patient carrying an unbalanced t (10q26.11-q26.3; 7p22.3) and presenting with severe intellectual disability autistic features, abnormalities of muscle tone, drug-responsive epilepsy. The prominence neurological neurodevelopmental in the clinical phenotype highlights possible pathogenic role for different genes involved regions. Hypothetical mechanisms may include gene dosage effect DOCK1 and/or haploinsufficiency PRKAR1B SUN1, ADAP1 , GPER1 .
Chromosomal submicroscopic imbalances represent well-known causes of neurodevelopmental disorders. In some cases, these can cause specific autosomal dominant syndromes, with high-to-complete penetrance and de novo occurrence the variant. other they result in non-syndromic disorders, often acting as moderate-penetrance risk factors, possibly inherited from unaffected parents. We describe a three-generation family neuropsychiatric features segregating novel 19q13.32q13.33 microduplication. The...
The aim of this study was to evaluate the relationship between neurodevelopmental disorders, brain anomalies, and copy number variations (CNVs) estimate diagnostic potential cytogenomical microarray analysis (CMA) in individuals neuroradiologically characterized with intellectual developmental disorders (IDDs) isolated or associated autism spectrum (ASDs) epilepsy (EPI), all which were identified as a "synaptopathies." We selected patients who received CMA magnetic resonance imaging (MRI)...