A5013430001- Hearing, Cochlea, Tinnitus, Genetics
- RNA modifications and cancer
- RNA and protein synthesis mechanisms
- Ear Surgery and Otitis Media
- Protein Tyrosine Phosphatases
- Galectins and Cancer Biology
- Hearing Loss and Rehabilitation
- Biochemical Analysis and Sensing Techniques
- Retinal Development and Disorders
- Vestibular and auditory disorders
- Connective tissue disorders research
- Ion channel regulation and function
- Genomics and Rare Diseases
- Connexins and lens biology
- Genetics and Neurodevelopmental Disorders
- Pediatric Hepatobiliary Diseases and Treatments
- Cellular transport and secretion
- Biochemical and Molecular Research
- Intestinal Malrotation and Obstruction Disorders
- Heme Oxygenase-1 and Carbon Monoxide
- Genetic factors in colorectal cancer
- Peptidase Inhibition and Analysis
- Congenital heart defects research
- Porphyrin Metabolism and Disorders
- Congenital Ear and Nasal Anomalies
Assistance Publique – Hôpitaux de Paris
2019-2023
IRCCS Materno Infantile Burlo Garofolo
2010-2023
University of Trieste
2012-2023
Istituti di Ricovero e Cura a Carattere Scientifico
2023
Institut des Maladies Génétiques Imagine
2020
Hôpital Necker-Enfants Malades
2019-2020
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...
Hereditary hearing loss (HHL) and age-related (ARHL) are two major sensory diseases affecting millions of people worldwide. Despite many efforts, additional HHL-genes ARHL genetic risk factors still need to be identified. To fill this gap a large genomic screening based on next-generation sequencing technologies was performed. Whole exome in 3-generation Italian HHL family targeted re-sequencing 464 patients were We detected three variants SPATC1L: nonsense allele an frameshift insertion...
Noonan syndrome (NS) is a clinically and genetically heterogeneous disorder. Since its clinical phenotype often mild difficult to differentiate from other syndromes, diagnosis can be challenging prevalence in the pediatric population most certainly underestimated. The difficulty identifying also increased by fact that genetic tests are currently not able detect an underlying mutation around 10% of cases.This retrospective, observational study conducted at Institute for Maternal Child "Burlo...
Dual molecular diagnoses are defined as the presence of pathogenic variants at two distinct and independently segregating loci that cause different Mendelian conditions. In this study, we report identification double genetic disorders in a series patients with complex clinical features. last 24 months, 342 syndromic have been recruited clinically characterised. Whole Exome Sequencing analysis has performed on proband both parents identified seven affected by dual diagnosis. Upon detailed...
Pendred syndrome (PDS) is the most common form of syndromic Hearing Loss (HL), characterized by sensorineural HL, inner ear malformations, and goiter, with or without hypothyroidism.
Abstract Hereditary Hearing Loss (HHL) is an extremely heterogeneous disorder. Approximately 30 out of 80 known HHL genes are associated with autosomal dominant forms. Here, we identified PSIP1/LEDGF (isoform p75) as a novel strong candidate gene involved in HHL. Using exome sequencing found frameshift deletion (c.1554_1555del leading to p.E518Dfs*2) Italian pedigree affected by sensorineural mild-to-moderate but also showing variable eye phenotype (i.e. uveitis, optic neuropathy). This led...
Left ventricular non-compaction (LVNC) is an abnormality of the myocardium, characterized by prominent left trabeculae and deep inter-trabecular recesses. Long QT syndrome (LQTS) a cardiac ion channelopathy presenting with prolonged interval on resting electrocardiogram associated increased susceptibility to sudden death. The association between LVNC LQTS uncommon.We report Italian family novel pathogenic KCNH2 variant who presented clinical features LQTS. proband came our attention after...
A previously well 3-month-old girl presented with diarrhea, progressive pale stools, weight loss, and jaundice. Preliminary investigations showed obstructive cholestatic jaundice increased γ-glutamyl transferase activity, conjugated bilirubin, bile salts. magnetic resonance cholangiography dilation of the main duct a sudden narrowing in distal segment no signs biliary stones extrinsic compression (Fig. 1).FIGURE 1: Magnetic showing common (^, maximum proximal 5 mm), on segment. Common...
Usher syndrome (USH) is an autosomal recessive disorder characterized by sensorineural hearing loss (HL), retinopathy, and vestibular areflexia, with variable severity. Although a high prevalence of behavioural mental disorders in USH patients has been reported, few studies on these psychiatric psychological issues have conducted. This work describes the case 16-year-old boy affected congenital bilateral HL, presenting suddenly altered behaviour concomitant decrease visual acuity. To...
Objectives: Hereditary Hearing Loss (HHL) is a common genetic disorder accounting for at least 60% of prelingual deafness in children. The long tradition consanguinity, which widespread among populations Arabian Peninsula, increases the prevalence HHL. It one most frequent causes school failure Qatar. GJB2 gene plays worldwide major role HHL recessive forms while Qatar it has minor thus strongly suggesting presence additional causative genes. To overcome remarkable heterogeneity population,...
Abstract Background Noonan syndrome (NS) is a clinically and genetically heterogeneous disorder. Since its clinical phenotype often mild difficult to differentiate from other syndromes, diagnosis can be challenging prevalence in the pediatric population most certainly underestimated. The difficulty identifying also increased by fact that genetic tests are currently not able detect an underlying mutation around 30% of cases. Methods This retrospective observational study conducted at...