Marta Mazzi

Ospedale Misericordia - Grosseto

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Alfredo Orrico

University of Siena

Ambra Cortesi

Ospedale Misericordia - Grosseto

Francesca Torricelli

Azienda Ospedaliero-Universitaria Careggi

Chiara Pescucci

University of Trieste

Maja Rossi

Ospedale Misericordia - Grosseto

Giuseppina Marseglia

Azienda Ospedaliero-Universitaria Careggi

Claudio Franceschi

Institute of Neurological Sciences

Ettore Caterino

Ospedale Misericordia - Grosseto

Fiammetta Sbernini

Azienda Ospedaliero-Universitaria Careggi

Giuseppe Maria Maruotti

University of Naples Federico II

Cooperative Institutions

Azienda Ospedaliero-Universitaria Careggi

Ospedale Misericordia - Grosseto

University of Florence

University of Siena

University of Bologna

University of Padua

University of Naples Federico II

Santa Maria Nuova Hospital

National Research Council

Istituti di Ricovero e Cura a Carattere Scientifico

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The Variable Expression of a Novel MBD5 Gene Frameshift Mutation in an Italian Family

Neuropediatrics (2020)

Alfredo Orrico Lucia Galli Maja Rossi Ambra Cortesi Marta Mazzi

Abstract Haploinsufficiency of the methyl-CpG-binding domain protein 5 (MBD5) gene is reported as a cause of an autosomal dominant type of cognitive disability (MRD1) and autism spectrum disorder through large deletions involving multiple genes or point mutations, ultimately leading to haploinsufficiency in both cases. However, relatively few reports have been published on the phenotypical spectrum resulting from point mutations. We report here on a novel heterozygous frameshift variant in the MBD5 gene [c.2579del; p.(Lys860Argfs*11)] in a family in which the typical signs associated with pathogenic variants were expressed with different degrees of severity in the clinical presentation of the carrier individuals. Our findings, adding a novel mutation to the mutational spectrum, further support the relevance of the MBD5 gene as one of the main molecular mechanisms involved in the pathogenesis of intellectual disability and contribute to the characterization of the genotype–phenotype correlations.

Variable Expression

10.1055/s-0040-1715633

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Citations (1)

Ethical, Legal and Social Issues (ELSI) Associated with Non-Invasive Prenatal Testing: Reflections on the Evolution of Prenatal Diagnosis and Procreative Choices

Genes (2021)

Simona Zaami Alfredo Orrico Fabrizio Signore Anna Franca Cavaliere Marta Mazzi

New technologies such as non-invasive prenatal testing (NIPT), capable of analyzing cell-free fetal DNA in the maternal bloodstream, have become increasingly widespread and available, which has in turn led to ethical and policy challenges that need addressing. NIPT is not yet a diagnostic tool, but can still provide information about fetal genetic characteristics (including sex) very early in pregnancy, and there is no denying that it offers valuable opportunities for pregnant women, particularly those at high risk of having a child with severe genetic disorders or seeking an alternative to invasive prenatal testing. Nonetheless, the ethical, legal and social implications (ELSI) include multiple aspects of informed decision-making, which can entail risks for the individual right to procreative autonomy, in addition to the potential threats posed by sex-selective termination of pregnancy (in light of the information about fetal sex within the first trimester), and the stigmatization and discrimination of disabled individuals. After taking such daunting challenges into account and addressing NIPT-related medicolegal complexities, the review's authors highlight the need for an ethically and legally sustainable framework for the implementation of NIPT, which seems poised to become a diagnostic tool, as its scope is likely to broaden in the near future.

Scope (computer science)

10.3390/genes12020204

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An additional case of cerebrofaciothoracic dysplasia associated with Chiari type I malformation

Clinical Dysmorphology (2013)

Ambra Cortesi Maja Rossi Marta Mazzi Giuseppina Marseglia Chiara Pescucci

Cortesi, Ambraa; Rossi, Majaa; Mazzi, Martaa; Marseglia, Giuseppinab; Pescucci, Chiarab; Palchetti, Simonab; Torricelli, Francescab; Orrico, Alfredoa,c Author Information

10.1097/mcd.0b013e328360c9ff

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Citations (7)

Genotype of inflammatory cytokines in limbal stem cell graft in Italian patients

Biochemical and Biophysical Research Communications (2005)

Francesco Lescai Luigi Conti Maurizio Bartolozzi Giulia Ramazzotti Marta Mazzi

10.1016/j.bbrc.2005.04.106

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Citations (3)

Validation of a method for noninvasive prenatal testing for fetal aneuploidies risk and considerations for its introduction in the Public Health System

The Journal of Maternal-Fetal & Neonatal Medicine (2016)

Francesca Gerundino Claudia Giachini Elisa Contini Matteo Benelli Giuseppina Marseglia

Objective: The aim of this study was to validate noninvasive prenatal testing (NIPT) for fetal aneuploidies by whole-genome massively parallel sequencing (MPS).Methods: MPS was performed on cell-free DNA (cfDNA) isolated from maternal plasma in two groups: a first set of 186 euploid samples and a second set of 195 samples enriched of aneuploid cases (n = 69); digital PCR for fetal fraction (FF) assessment was performed on 178/381 samples. Cases with <10 × 106 reads (n = 54) were excluded for downstream data analysis. Follow-up data (invasive testing results or neonatal information) were available for all samples. Performances in terms of specificity/sensitivity and Z-score distributions were evaluated.Results: All positive samples for trisomy 21 (T21) (n = 43), trisomy 18 (T18) (n = 6) and trisomy 13 (T13) (n = 7) were correctly identified (sensitivity: 99.9%); 5 false positive results were reported: 3 for T21 (specificity = 98.9%) and 2 for T13 (specificity = 99.4%). Besides FF, total cfDNA concentration seems another important parameter for MPS, since it influences the number of reads.Conclusions: The overall test accuracy allowed us introducing NIPT for T21, T18 and T13 as a clinical service for pregnant women after 10 + 4 weeks of gestation. Sex chromosome aneuploidy assessment needs further validation due to the limited number of aneuploid cases in this study.

Trisomy

Cell-free fetal DNA

Prenatal screening

Massive parallel sequencing

10.1080/14767058.2016.1183633

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Citations (6)