Claudia Cesaretti

ERN GENTURIS guideline on counselling on reproductive options for individuals with a cancer predisposition syndrome (including genturis)

Said Farschtschi, Candy Kumps, Tamara Milagre, Periklis Makrythanasis et autres

Cancer predisposition syndromes (CPSs), including genetic tumour risk syndromes (genturis), are a heterogeneous group of genetic disorders characterised by an increased risk of developing tumours compared to the general population. CPSs raise reproductive issues for affected individuals because of the risk of …

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Prenatal Exome Sequencing: When Does Diagnostic Yield Meet Clinical Utility?

Alessia Carrer, Francesco Maria Crupano, Berardo Rinaldi, Giulietta Scuvera et autres

BACKGROUND/OBJECTIVES: Prenatal Exome Sequencing (pES) has revolutionized prenatal diagnosis in fetuses with congenital anomalies. Although its performance is very promising, previous pES studies have mainly focused on diagnostic yield, often without considering the actual impact on ongoing pregnancies. In this study, we …

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Medullary thyroid carcinoma and c-cell hyperplasia in patients affected with neurofibromatosis type 1

Andrea Contarino, Alessia Dolci, Giulia Rodari, Mariarosa Ferrara et autres

Neurofibromatosis type I (NF1) and bone involvement in a pediatric setting: insights from FGF23 levels

Giulia Rodari, Valeria Citterio, Masami Ikehata, Deborah Mattinzoli et autres

BACKGROUND: Neurofibromatosis type I (NF1) is an autosomal dominant disorder characterized by extremely different phenotypes, sometimes including reduced bone mass. The underlying cause of bone impairment in these patients remains poorly understood, especially in children. Previous studies in mice and single reports …

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CTNND1‐Related Disorder: New Insight on Prenatal Phenotype

Bárbara Conti, Claudia Di Napoli, Sara Hafdaoui, Valeria Nicotra et autres

CTNND1 is a gene located in 11q12.1, encoding for p120 catenin, a protein involved in maintaining adherent junctions, regulating the epithelial-mesenchymal transition, and transcriptional signaling of different cellular pathways. Pathogenic variants in CTNND1 are classically associated with isolated cleft palate and Blefaro-cheilo-dontic …

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Neurofibromatosis Type I (NF1) and Bone Involvement in a pediatric setting: Insights from FGF23 Levels

Giulia Rodari, Valeria Citterio, Masami Ikehata, Deborah Mattinzoli et autres

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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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Breast density in NF1 women: a retrospective study

Raffaella De Santis, Giulia Cagnoli, Berardo Rinaldi, Dario Consonni et autres

Neurofibromatosis type 1 (NF1) is an autosomal dominant condition caused by neurofibromin haploinsufficiency due to pathogenic variants in the NF1 gene. Tumor predisposition has long been associated with NF1, and an increased breast cancer (BC) incidence and reduced survival have been reported …

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CATSHL syndrome, a new family and phenotypic expansion

Silvia Cannova, Camilla Meossi, Federico Grilli, Donatella Milani et autres

We report the case of a 12-year-old girl and her father who both had marked postnatal tall stature, camptodactyly and clinodactyly, scoliosis and juvenile-onset hearing loss. The CATSHL (CAmptodactyly - Tall stature - Scoliosis - Hearing Loss syndrome) syndrome was suspected, and …

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Author response for "CATSHL syndrome, a new family and phenotypic expansion"

Silvia Cannova, Camilla Meossi, Federico Grilli, Donatella Milani et autres

Evaluation of Couples at Risk for Hemoglobin Disorders in Italy: The Results of an 18-Month Retrospective Observational Single-Center Study

Alfredo Marchetti, Elisa Sambruna, Giacomo Aquilino, Francesco Ballardini et autres

Background: Hemoglobinopathies are genetic disorders caused by mutations in the genes encoding globin chains. These conditions are the most common monogenic disorders worldwide, resulting in significant morbidity and mortality among those affected by the most severe forms. Antenatal evaluation for thalassemia and …

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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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