Mariateresa Zanobio

Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases

Annalaura Torella, Manuela Morleo, Carmine Spampanato, Raffaele Castello et autres

Purpose: Many children with severe genetic disorders remain undiagnosed despite advanced genomic technologies. Early diagnosis is vital for prognosis, genetic counseling, and targeted treatment development. This study aims to increase diagnostic rates in complex pediatric cases and foster research into disease mechanisms. …

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Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes

Pasquale Di Letto, Chiara De Leonibus, F. Palmieri, Mariateresa Zanobio et autres

Background and Objectives: variants within a cohort of unsolved patients exhibiting NDDs from the Telethon Undiagnosed Disease Program (TUDP). Methods: critical region. Results: occurred de novo, including 10 with the recurrent n.64_65insT insertion and 1 with n.77_78insT. Structural modeling suggested that these …

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Myopathic Ehlers-Danlos Syndrome (mEDS) Related to COL12A1: Two Novel Families and Literature Review

Luciano Merlini, Patrizia Sabatelli, Vittoria Cenni, Mariateresa Zanobio et autres

Myopathic Ehlers-Danlos syndrome (RmEDS) is an emerging hybrid phenotype that combines connective and muscle tissue abnormalities. It has been associated with variants of the COL12A1 gene, which are known as Ullrich congenital muscular dystrophy-2 (UCMD2; 616470) and Bethlem myopathy-2 (BTHLM2; 616471). Here, …

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Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome

Pasquale Di Letto, Alberto Budillon, Francesca Del Vecchio Blanco, Mariateresa Zanobio et autres

Sotos syndrome is a rare genetic disorder characterized by distinctive facial features, including a broad and prominent forehead, dolichocephaly, and learning disabilities ranging from mild to severe intellectual impairment. Affected individuals often show overgrowth in height and head circumference over two standard …

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CAPRIN1 Pro512Leu Variant Causes Childhood Dementia, Myoclonus‐Ataxia, and Sensorimotor Neuropathy

Rossella Bove, Annalaura Torella, María Novelli, Giacomina Ricciardi et autres

The CAPRIN1 gene (OMIM * 601178) encodes for the Cell Cycle-Associated Protein 1 (CAPRIN1), a ubiquitously expressed protein that is highly enriched in tissues with elevated cell turnover [1][2][3] and in the central nervous system (CNS), particularly in the frontal cortex and …

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Deletion Testing of the DEGS1 Gene Should Be Part of the Diagnostic Pipeline for Hypomyelinating Leukodystrophy (HLD18)

Mariateresa Zanobio, Francesca Nardecchia, Gerarda Cappuccio, Maria Elena Onore et autres

Hypomyelinating leukodystrophies are a heterogeneous group of disorders characterized by abnormal myelin formation in the central nervous system. Thanks to the increased use of NGS, a growing number of pathogenic single nucleotide variants in DEGS1 have recently been reported to be responsible …

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In vitro high-content screening reveals miR-429 as a protective molecule in photoreceptor degeneration

Georgios Petrogiannakis, Irene Guadagnino, Santiago Negueruela, Martina Di Guida et autres

Inherited retinal diseases (IRDs) are clinically and genetically heterogeneous disorders characterized by progressive photoreceptor degeneration and irreversible vision loss. MicroRNAs (miRNAs), a class of endogenous non-coding RNAs with post-transcriptional regulatory properties, are known to play a major role in retinal function, both …

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66P Clinical and molecular complexity in desminopathy: description of a novel variant in DES gene

F. Torri, A. Torella, Giulia Ricci, Beatrice Ciurli et autres

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Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules

Gioia Mastromoro, Claudia Santoro, Marialetizia Motta, Ugo Sorrentino et autres

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Joint contractures is a recurrent clinical feature of individuals with neurodevelopmental disorder due to FOXP1 likely gene disruptive variants

Cristina Peduto, Gerarda Cappuccio, Roberta Zeuli, Mariateresa Zanobio et autres

Haploinsufficiency of FOXP1 gene is responsible for a neurodevelopmental disorder presenting with intellectual disability (ID), autism spectrum disorder (ASD), hypotonia, mild dysmorphic features, and multiple congenital anomalies. Joint contractures are not listed as a major feature of FOXP1-related disorder. We report five …

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Comprehensive WES reanalysis of rare endocrine patients for the identification of novel disease-causing genes

Muhammad Talha Bin Yousaf, Mariateresa Zanobio, Francesca Allosso, Vincenzo Nigro et autres

Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience

F. Fortunato, Francesca Bianchi, Giulia Ricci, Francesca Torri et autres

BACKGROUND: The development of e-health technologies for teleconsultation and exchange of knowledge is one of the core purposes of European Reference Networks (ERNs), including the ERN EURO-NMD for rare neuromuscular diseases. Within ERNs, the Clinical Patient Management System (CPMS) is a web-based …

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