Francesca Torricelli's research while affiliated with University of Florence and other places

Publications (210)

Article
Background: The complement system has been implicated in the pathogenesis of age-related macular degeneration (AMD) and the CFH Y402H polymorphism has been suggested as a major risk factor for AMD. Recent evidences supported the role of inflammation in the pathogenesis of some retinal dystrophies. Aim of this study was to evaluate the prevalence of...
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Purpose: Genetic testing in hypertrophic cardiomyopathy (HCM) has long relied on Sanger sequencing of sarcomeric genes. The advent of next-generation sequencing (NGS) has catalyzed routine testing of additional genes of dubious HCM-causing potential. We used 19 years of genetic testing results to define a reliable set of genes implicated in Mendel...
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We report results of DNA analysis with next generation sequencing (NGS) of 21 consecutive Italian patients from 17 unrelated families with clinical diagnosis of Usher syndrome (4 USH1 and 17 USH2) searching for mutations in 11 genes: MYO7A, CDH23, PCDH15, USH1C, USH1G, USH2A, ADGVR1, DFNB31, CLRN1, PDZD7, HARS. Likely causative mutations were found...
Article
Objective Usher’s syndrome type II (USH2) is characterized by moderate to profound congenital hearing loss, later onset of retinitis pigmentosa, and normal vestibular function. Recently, a study investigating the vestibular function of USH2 patients demonstrated a pathologic response to vestibular tests. In this cross-sectional study we performed v...
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Objective: The aim of this study was to validate noninvasive prenatal testing (NIPT) for fetal aneuploidies by whole-genome massively parallel sequencing (MPS). Methods: MPS was performed on cell-free DNA (cfDNA) isolated from maternal plasma in two groups: a first set of 186 euploid samples and a second set of 195 samples enriched of aneuploid...
Article
Genes associated with hypertrophic cardiomyopathy (HC) are not uniformly expressed in the atrial myocardium. Whether this may impact susceptibility to atrial fibrillation (AF) is unresolved. To analyze the prevalence and clinical correlates of AF in relation to genotype in a large HC cohort. Prevalence and clinical profile of AF were assessed in 23...
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BACKGROUND: Personal genomic tests (PGT) offered directly-to-consumers (DTC) for complex disease risk assessment have raised several concerns regarding their potential adverse impact. To mitigate worries continuing professional education has been advocated and the central gatekeeper role of family physicians has been highlighted. Nevertheless, to d...
Article
Next generation sequencing (NGS) represents the newest approach for massive DNA sequencing. Although this innovative approach is a well-established point in diagnostic genetics, the applicability in forensic field is still limited to sporadic pilot studies. This limit arises from the samples’ complexity, in terms of poor quality/quantity ratio, lea...
Article
Forensic genetics is extremely useful for the resolution of criminal cases, identification of missing persons and paternity/kinship testing. The Italian town of Prato, near Florence, has been a centre of Italian textile industry since the 12th century and now it hosts a number of Chinese-run textile factories producing garments for export across Eu...
Article
NGS has the potential to be a promising technology for recovering genetic information from challenging specimens in forensic genetics. In order to understand the role of DNA damage on the outcome of NGS, we investigated the performance of ForenSeq™ DNA Signature kit, Illumina (in its pre-commercial version) on a set of in vitro degraded trial DNA s...
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The accurate detection of low-allelic variants is still challenging, particularly for the identification of somatic mosaicism, where matched control sample is not available. High through-put sequencing, by the simultaneous and independent analysis of thousands of different DNA fragments, might overcome many of the limits of traditional methods, gre...
Article
Hereditary hemochromatosis (HH) is a heterogeneous disorder of iron metabolism. The most common form of the disease is Classic or type 1 HH, mainly caused by a biallelic missense p.Cys282Tyr (c.845G>A) mutation in the HFE gene. However, the penetrance of p.Cys282Tyr/p.Cys282Tyr genotype is incomplete in terms of both biochemical and clinical expres...
Conference Paper
Una delle prime applicazioni della diagnosi prenatale non invasiva è stata la determinazione del sesso fetale in donne portatrici di malattie X-linked e del fattore Rh fetale nelle donne Rh negativo. Ad oggi sono stati raccolti 2300 campioni di plasma di donne in gravidanza (9-11 settimane di gestazione) e sono stati analizzati 603 casi mediante re...
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To analyze the spectrum of sequence variants in the MYO7A and USH2A genes in a group of Italian patients affected by Usher syndrome (USH). Thirty-six Italian patients with a diagnosis of USH were recruited. They received a standard ophthalmologic examination, visual field testing, optical coherence tomography (OCT) scan, and electrophysiological te...
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Mild hypertrophy but increased arrhythmic risk characterizes the stereotypic phenotype proposed for hypertrophic cardiomyopathy (HCM) caused by thin-filament mutations. However, whether such clinical profile is different from more prevalent thick-filament-associated disease is unresolved. This study aimed to assess clinical features and outcomes in...
Article
In a standard paternity testing, mother, child, and alleged father are analyzed with STR markers using commercially available kits. Since Italian civil legislation does not have thresholds to confirm a paternity, paternity is practically proven when likelihood ratio increases prior probability of paternity to posterior, accepted by court as suffici...
Article
We describe a patient with speech impairment, global developmental delay, behavioural problems and a 186 kb de novo microdeletion on 16p11.2. There are four OMIM Phenotypes entries partially overlapping with the deleted region and related to recurrent microdeletions/microduplications in 16p11.2. A detailed review of published data shows that microd...
Article
Background: Next-generation sequencing might be particularly advantageous in genetically heterogeneous conditions, such as hypertrophic cardiomyopathy (HCM), in which a considerable proportion of patients remain undiagnosed after Sanger. In this study, we present an Italian family with atypical HCM in which a novel disease-causing variant in α-act...
Article
In a case of robbery in which the criminals passed through the garden adorned with calamondin trees (Citrus madurensis), the investigators found in the grass six calamondin fruits, some undamaged, while others apparently bitten. The fruits were collected and sent to the laboratory for DNA analysis to verify the presence of saliva and robbers' DNA p...
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The use of semi-automated extraction from forensic samples is useful both for contamination control and method reproducibility. However, when an accredited ISO17025 forensic laboratory starts to use a new analytical system, an internal validation procedure is needed before processing forensic samples. Here we show validation results obtained by int...
Article
Although in Italy DNA analysis is used since the beginnings, the introduction of a specific legislation had a very important impact for the quality of the results. Only authorized laboratories can now implement the database with genetic profiles; these labs have to follow ISO/IEC standard and according to the Council Framework Decision 2009/905/JHA...
Article
Allele frequencies for 26 short tandem repeats (STRs) were obtained from a sample of 203 unrelated individuals living in the area of Florence, Prato and Pistoia (Tuscany, Central Italy). These 26 loci are in addition to the existing 13 U.S. core loci and can help provide assistance in complex kinship testing when, for example, the alleged father is...
Article
The ISO/IEC standards establishes that every new method used in an accredited ISO17025 forensic laboratory must be submitted to internal validation before processing the samples. This paper aims to verify the efficacy of a new analytic method of DNA extraction from teeth, based on a semi-automatic procedure that permits processing in a single cycle...
Article
Customized chemotherapy has several advantages: patients are more likely to be treated with the most effective agents and can be spared the toxicity of ineffective drugs. Based on the literature, excision repair cross complementation group 1 (ERCC1) and ribonucleotide reductase M1 (RRM1) genes represent predictive biomarkers of response to platinum...
Article
Purpose: Genetic basis of hereditary cardiomyopathies (CMs) are not yet entirely understood. Implementation of highly sophisticated technologies, such as Next Generation Sequencing (NGS), allows comprehensive molecular analysis in these complex disorders. We studied 12 patients with different form of hereditary CMs, who were negative to standard ge...
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Purpose: Naxos and Carvajal syndrome are rare forms of recessive Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC), characterized by ventricle dysplasia/dilated cardiomyopathy and ventricular arrhythmias, associated with palmoplantar keratoderma and woolly hair. We report the case of an Italian 37-year-old woman with a form of ARVC characteriz...
Article
In hypertrophic cardiomyopathy, the plasma levels of N-terminal pro-brain natriuretic peptide (NT-proBNP) correlate with functional capacity. However, their prognostic relevance remains unresolved. We followed up 183 stable outpatients with hypertrophic cardiomyopathy (age 50 ± 17 years, 64% men) for 3.9 ± 2.8 years after NT-proBNP measurement. The...
Article
Male patients with Anderson-Fabry disease (AFD) often exhibit cardiac involvement, characterized by LV hypertrophy (LVH), associated with severe coronary microvascular dysfunction (CMD). Whether CMD is present in patients without LVH, particularly when female, remains unresolved. The aim of the study was to investigate the presence of CMD by positr...
Article
Cerebrofaciothoracic dysplasia (CFTD) (MIM%213980), also known as Pascual-Castroviejo type I syndrome, is an extremely rare, although well described, multiple congenital anomaly/mental retardation (MCA/MR) syndrome comprising MR and a constellation of abnormalities including facial dysmorphism and thoracic costovertebral malformations. The conditio...
Article
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To analyze the spectrum of sequence variants in the BEST1 gene in a group of Italian patients affected by Best vitelliform macular dystrophy (VMD). Thirty Italian patients with a diagnosis of VMD and 20 clinically healthy relatives were recruited. They belonged to 19 Italian families predominantly originating from central Italy. They received a sta...
Article
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Motivation: The discovery of novel gene fusions can lead to a better comprehension of cancer progression and development. The emergence of deep sequencing of trancriptome, known as RNA-seq, has opened many opportunities for the identification of this class of genomic alterations, leading to the discovery of novel chimeric transcripts in melanomas,...
Data
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Osteoarthritis and osteoporosis are the two most common age-related chronic disorders of articular joints and skeleton, representing a major public health problem in most developed countries. Apart from being influenced by environmental factors, both disorders have a strong genetic component, and there is now considerable evidence from large popula...