Luigina Spaccini

The Expanding Phenotypic Spectrum of COL4A1- and COL4A2-Related Disorders: A Systematic Review

Eleonora Bonaventura, Daria Marelli, Umberto Carugo, Davide Politano et autres

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Long-read genome sequencing resolves a de novo complex 18q12.1q21.2 triplication causing partial tetrasomy and reveals its underlying mechanism

Serena Redaelli, Viviana Tritto, Eleonora Mangano, Roberta Bordoni et autres

Chromosomal triplications are rare structural variations often associated with complex phenotypes. We report the molecular characterization of a novel intrachromosomal triplication at 18q12.1q21.2 identified in a fetus with ultrasound abnormalities. Conventional karyotyping and array-CGH revealed a partial tetrasomy and a 26 Mb …

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Alkaline Phosphatase and Infantile GM1 Gangliosidosis: A Simple Biomarker for a Complex Disease?

Laura Fiori, Massimiliano Turzi, Veronica Maria Tagi, Laura Asnaghi et autres

ABSTRACT GM1 gangliosidosis is a lysosomal storage disease (LSD) caused by β‐galactosidase deficiency, characterized by the accumulation of gangliosides in various tissues. Among different GM1 forms (infantile form, late‐infantile and juvenile form, and late‐onset form), the infantile form is the most severe: …

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Newborn Screening of X-Linked Adrenoleukodystrophy in Italy: Clinical and Biochemical Outcomes from a 4-Year Pilot Study

Eleonora Bonaventura, Fabio Bruschi, Luisella Alberti, Clara Eleonora Antonello et autres

X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder, caused by mutations in the ABCD1 gene. Early diagnosis is critical to manage adrenal insufficiency and cerebral forms of the disease. Since 2021, a pilot newborn screening (NBS) program for X-ALD has been …

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The PHOX2B c.428A>G missense variant affects post-transcriptional regulation and may explain the absence of neural crest-derived tumors in congenital central hypoventilation syndrome

Tiziana Bachetti, Simona Bagnasco, Giuseppe Santamaria, Maria Francesca Bedeschi et autres

Introduction: Heterozygous mutations in the paired-like homeobox 2b (PHOX2B) gene cause congenital central hypoventilation syndrome (CCHS). While polyalanine expansions are almost exclusively associated with isolated CCHS, missense, nonsense, and frameshift mutations are mainly identified in syndromic CCHS, presenting with Hirschsprung disease (CCHS …

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First‐Tier Versus Last‐Tier Trio Whole‐Genome Sequencing for the Diagnosis of Pediatric‐Onset Rare Diseases

Camilla Lucca, Erica Rosina, Lidia Pezzani, Daniela Piazzolla et autres

Despite advances in diagnostics, children with rare genetic disorders still face extended diagnostic odysseys, delaying appropriate clinical management, and placing burdens on families and healthcare resources. Whole-genome sequencing (WGS) offers a more comprehensive interrogation of the genome than other genetic tests, but …

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Author response for "First‐Tier Versus Last‐Tier Trio Whole‐Genome Sequencing for the Diagnosis of Pediatric‐Onset Rare Diseases"

Camilla Lucca, Erica Rosina, Lidia Pezzani, Daniela Piazzolla et autres

Neurodevelopmental Outcome in Isolated Vermian Hypoplasia: A Single-Center Retrospective Cohort Study and Literature Review

Gianni Cutillo, Marta Zambon, Stefano Faiola, Daniela Casati et autres

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Monochorionic Diamniotic Twins with Sex Discordance: Case Series

Valentina Sala, Luigina Spaccini, Stefano Faiola, Daniela Casati et autres

Background and Clinical Significance: Ultrasonographic diagnosis of twin pregnancies has become routine, with chorionicity playing a crucial role in assessing associated risks. Traditionally, monochorionic (MC) twins were believed to derive from a single zygote, ensuring sex concordance. However, recent cases of dizygotic …

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Novel Genetic Variant in HUWE1

Mario Tortora, Elisa Cattaneo, Luigina Spaccini, Maria Rosaria Iascone et autres

Objectives: , particularly in relation to pontine and cerebellar hypoplasia. Methods: likely pathogenic variant and discuss its function. Results: An ultrasound shows borderline ventriculomegaly, rotated cerebellar vermis, and dysgenetic corpus callosum. An MR study identify a short, thin corpus callosum, falcine sinus …

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Amnioreduction for Polyhydramnios in a Consecutive Series at a Single Center: Indications, Risks and Perinatal Outcomes

Arianna Laoreti, Valentina Sala, Daniela Casati, Stefano Faiola et autres

Pregnancies complicated by severe polyhydramnios are associated with a high rate of underlying fetal anomaly. Amnioreduction may be offered to alleviate maternal symptoms. This is a retrospective study of amnioreductions performed on singleton and twin gestations complicated by symptomatic polyhydramnios between 2010 …

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Giant congenital fibroblastic connective tissue nevus associated with vascular anomalies

Heidi Thanasi, AndrewJ Fabiano, Vittoria Baraldini, Elisa Cattaneo et autres

We described an unusual combination of fibroblastic connective nevus (FCTN) already present at birth with underlying vascular anomalies. Overall, the lesion appeared as a large purplish-brown mass in the groin region up to the third of the right thigh, with partial spontaneous …

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