Paola Bettinaglio

Genetic/epigenetic effects in NF1 microdeletion syndrome: beyond the haploinsufficiency, looking at the contribution of not deleted genes

Viviana Tritto, Paola Bettinaglio, Eleonora Mangano, Claudia Cesaretti et autres

NF1 microdeletion syndrome, accounting for 5-11% of NF1 patients, is caused by a deletion in the NF1 region and it is generally characterized by a severe phenotype. Although 70% of NF1 microdeletion patients presents the same 1.4 Mb type-I deletion, some patients …

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Expression analysis of NF1‐mutated alleles in a rare compound heterozygous spinal NF1 patient by digital PCR

Paola Bettinaglio, Viviana Tritto, Rosina Paterra, Marica Eoli et autres

BACKGROUD: Neurofibromatosis type 1 (NF1) is a heterogeneous neurocutaneous disorder. Spinal neurofibromatosis (SNF) is a distinct clinical entity of NF1, characterized by bilateral neurofibromas involving all spinal nerve roots. Although both forms are caused by intragenic heterozygous variants of NF1, missense variants …

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New insights into the molecular basis of spinal neurofibromatosis type 1

Paola Bettinaglio, Eleonora Mangano, Viviana Tritto, Roberta Bordoni et autres

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A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort

Rosina Paterra, Paola Bettinaglio, Arianna Borghi, Eleonora Mangano et autres

Spinal neurofibromatosis (SNF), a phenotypic subclass of neurofibromatosis 1 (NF1), is characterized by bilateral neurofibromas involving all spinal roots. In order to deepen the understanding of SNF’s clinical and genetic features, we identified 81 patients with SNF, 55 from unrelated families, and …

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BIOM-10. PREVALENCE OF NF1 MISSENSE MUTATIONS AND CANDIDATE MODIFIER GENES IN SPINAL NEUROFIBROMATOSIS PATIENTS

Paola Riva, Eleonora Mangano, Claudia Cesaretti, Paola Bettinaglio et autres

Abstract INTRODUCTION Spinal Neurofibromatosis (SNF), a distinct clinical entity of NF1, characterized by bilateral neurofibromas involving all spinal roots and a few, if any, cutaneous manifestations, entails greater morbidity than the classical form of disease. Nevertheless, there are no reliable patterns to …

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Angiotensin Converting Enzyme Insertion/Deletion Polymorphism and Renoprotection in Diabetic and Nondiabetic Nephropathies

Piero Ruggenenti, Paola Bettinaglio, Franck Pinares, Giuseppe Remuzzi

Despite the huge amount of studies looking for candidate genes, the ACE gene remains the unique, well-characterized locus clearly associated with pathogenesis and progression of chronic kidney disease, and with response to treatment with drugs that directly interfere with the renin angiotensin …

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Genetic analysis of the complement factor H related 5 gene in haemolytic uraemic syndrome

Giuseppe Monteferrante, Simona Brioschi, Jessica Caprioli, Gaia Pianetti et autres

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Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome

Jessica Caprioli, Marina Noris, Simona Brioschi, Gaia Pianetti et autres

Hemolytic uremic syndrome (HUS) is a thrombotic microangiopathy with manifestations of hemolytic anemia, thrombocytopenia, and renal impairment. Genetic studies have shown that mutations in complement regulatory proteins predispose to non-Shiga toxin-associated HUS (non-Stx-HUS). We undertook genetic analysis on membrane cofactor protein (MCP), …

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Hemolytic Uremic Syndrome: A Fatal Outcome after Kidney and Liver Transplantation Performed to Correct Factor H Gene Mutation

Giuseppe Remuzzi, Piero Ruggenenti, M. Colledan, Bruno G. Gridelli et autres

Factor H-associated hemolytic uremic syndrome (HUS) is a genetic form of thrombotic microangiopathy characterized by deficient factor H (HF-1) levels/activity and uncontrolled complement activation. The disorder mostly leads to end-stage renal disease and often recurs after kidney transplantation. We previously demonstrated that …

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Complement factor H mutations and gene polymorphisms in haemolytic uraemic syndrome: the C-257T, the A2089G and the G2881T polymorphisms are strongly associated with the disease

Jessica Caprioli, Federica Castelletti, Sara Bucchioni, Paola Bettinaglio et autres

Mutations in complement factor H (HF1) gene have been reported in non-Shiga toxin-associated and diarrhoea-negative haemolytic uraemic syndrome (D-HUS). We analysed the complete HF1 in 101 patients with HUS, in 32 with thrombotic thrombocytopenic purpura (TTP) and in 106 controls to evaluate …

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Single strand conformation polymorphism (SSCP) as a quick and reliable method to genotype M235T polymorphism of angiotensinogen gene

Paola Bettinaglio, Andrea Galbusera, Jessica Caprioli, Silvia Orisio et autres

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The Molecular Basis of Familial Hemolytic Uremic Syndrome

Jessica Caprioli, Paola Bettinaglio, Peter F. Zipfel, Barbara Amadei et autres

The aim of the present study was to clarify whether factor H mutations were involved in genetic predisposition to hemolytic uremic syndrome, by performing linkage and mutation studies in a large number of patients from those referred to the Italian Registry for …

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