Giuseppe Marangi

Burden of pathogenetic and likely pathogenetic variants in SPG7, SPG11 and AP4 genes in Amyotrophic Lateral Sclerosis. A case-control study

Paolo Niccolò Doronzio, Serena Lattante, Daniela Bernardo, Agata Katia Patanella et autres

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Clinical-Genetic Approach to Conditions with Macrocephaly and ASD/Behaviour Abnormalities: Variants in PTEN and PPP2R5D Are the Most Recurrent Gene Mutations in a Patient-Oriented Diagnostic Strategy

Federica Francesca L’Erario, Annalisa Gazzellone, Ilaria Contaldo, Chiara Veredice et autres

Background: Macrocephaly can be a component manifestation of several monogenic conditions, in association with intellectual disability/developmental delay (ID/DD) behaviour abnormalities, including autism spectrum disorders (ASD), and variable additional features. On the other hand, idiopathic ASD can present with developmental delay and macrocephaly. …

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The same genomic variants in the first three exons of KANSL1 can be either benign or causative of Koolen-de Vries syndrome: Definition of a validation procedure

Federica Francesca L’Erario, Giuseppe Marangi, Anna Gloria Renzi, Marina Carapelle et autres

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Exploring the Role of CCNF Variants in Italian ALS Patients

Giulia Bisogni, Amelia Conte, Umberto Costantino, Serena Lattante et autres

Objectives: Variants in Cyclin F (CCNF) have been associated to amyotrophic lateral sclerosis (ALS) and/or frontotemporal dementia (FTD) in a group of cases. The objectives of this study were to determine the contribution of CCNF in a large cohort of Italian ALS …

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Pathogenic variants in SOX11 mimicking Pitt‐Hopkins syndrome phenotype

Domizia Pasquetti, Federica Francesca L’Erario, Giuseppe Marangi, Arianna Panfili et autres

Abstract Pitt‐Hopkins syndrome (PTHS) is a rare neurodevelopmental disorder characterised by severe intellectual disability (ID), distinctive facial features and autonomic nervous system dysfunction, caused by TCF4 haploinsufficiency. We clinically diagnosed with PTHS a 14 6/12 ‐year‐old female, who had a normal status …

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CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories

Simona Amenta, Giuseppe Marangi, Daniela Orteschi, Silvia Frangella et autres

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Evaluating the contribution of the gene TARDBP in Italian patients with amyotrophic lateral sclerosis

Serena Lattante, Mario Sabatelli, Giulia Bisogni, Giuseppe Marangi et autres

BACKGROUND AND OBJECTIVES: Genetic variants in the gene TARDBP, encoding TDP-43 protein, are associated with amyotrophic lateral sclerosis (ALS) in familial (fALS) and sporadic (sALS) cases. Objectives of this study were to assess the contribution of TARDBP in a large cohort of …

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Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Variant in MFSD8

Domizia Pasquetti, Giuseppe Marangi, Daniela Orteschi, Marina Carapelle et autres

Neuronal ceroid lipofuscinoses (CNL) are lysosomal storage diseases that represent the most common cause of dementia in children. To date, 13 autosomal recessive (AR) and 1 autosomal dominant (AD) gene have been characterized. Biallelic variants in MFSD8 cause CLN7 type, with nearly …

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Analysis of STMN2 CA repeats in italian ALS patients shows no association

Paolo Niccolò Doronzio, Serena Lattante, Giuseppe Marangi, Francesco Martello et autres

Amyotrophic Lateral Sclerosis (ALS) is a fatal neurodegenerative disease caused by a complex interaction of genetic and environmental factors. Recently, a polymorphic intronic CA repeat in STMN2 gene has been proposed as risk factor for ALS. The presence of long/long CA genotype, …

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Generation of an induced pluripotent stem cell line (UCSCi002-A) from a patient with a variant in TARDBP gene associated with familial amyotrophic lateral sclerosis and frontotemporal dementia

Francesco Martello, Serena Lattante, Paolo Niccolò Doronzio, Amelia Conte et autres

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that selectively affects motor neurons. In 20% of cases, ALS appears in comorbidity with frontotemporal dementia (FTD). We generated patient-derived-induced Pluripotent Stem Cells (iPSCs), from an ALS/FTD patient. The patient had a familial …

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SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance

Amélie Cordovado, Martina Schaettin, Médéric Jeanne, Veranika Panasenkava et autres

Intellectual disability (ID) is a neurodevelopmental disorder frequently caused by monogenic defects. In this study, we collected 14 SEMA6B heterozygous variants in 16 unrelated patients referred for ID to different centers. Whereas, until now, SEMA6B variants have mainly been reported in patients …

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Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

Élodie M. Richard, Somayeh Bakhtiari, Ashley P.L. Marsh, Rauan Kaiyrzhanov et autres

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