Correction
Genetics & Heredity
Bruno Reversade, Nathalie Escande-Beillard, Aikaterini Dimopoulou, Bjorn Fischer, Serene C. Chng, Yun Li, Mohammad Shboul, Puay-Yoke Tham, Hulya Kayserili, Lihadh Al-Gazali, Monzer Shahwan, Francesco Brancati, Hane Lee, Brian D. O'Connor, Mareen Schmidt-von Kegler, Barry Merriman, Stanley F. Nelson, Amira Masri, Fawaz Alkazaleh, Deanna Guerra, Paola Ferrari, Arti Nanda, Anna Rajab, David Markie, Mary Gray, John Nelson, Arthur Grix, Annemarie Sommer, Ravi Savarirayan, Andreas R. Janecke, Elisabeth Steichen, David Sillence, Ingrid Hausser, Birgit Budde, Gudrun Nurnberg, Peter Nurnberg, Petra Seemann, Desiree Kunkel, Giovanna Zambruno, Bruno Dallapiccola, Markus Schuelke, Stephen Robertson, Hanan Hamamy, Bernd Wollnik, Lionel Van Maldergem, Stefan Mundlos, Uwe Kornak
Article
Genetics & Heredity
Carmela Fusco, Grazia Nardella, Lucio Di Filippo, Elisabetta Dejana, Davide Cacchiarelli, Antonio Petracca, Lucia Micale, Matteo Malinverno, Marco Castori
Summary: Cerebral cavernous malformations (CCM) are capillary malformations affecting the central nervous system and have been found to be associated with changes in inflammation and pathogen recognition pathways.
Article
Pediatrics
Lucia Micale, Federica Russo, Martina Mascaro, Silvia Morlino, Grazia Nardella, Carmela Fusco, Luigi Bisceglia, Germana Meroni, Marco Castori
Summary: This study investigated the functional effects of intronic variants in the MID1 gene on splicing using a minigene assay. The results demonstrated the potential pathogenicity of these variants and suggested the introduction of similar second-tier investigations in the molecular diagnostics workflow of Opitz syndrome. This study highlights the importance of minigene assays in supporting the clinical interpretation of intronic variants.
PEDIATRIC RESEARCH
(2023)
Editorial Material
Dermatology
Judith Fischer, Svenja Alter
BRITISH JOURNAL OF DERMATOLOGY
(2023)
Article
Dermatology
Sabine Jaegle, Hao-Hsiang Hsu, Hazem A. Juratli, Andreas D. Zimmer, Amelie Prieschl, Svenja Alter, Bernhard Wiedenhofer, Dieter Metze, Steffen Emmert, Judith Fischer
Summary: By analyzing a cohort of 5 HLP patients, rare variants in the SPTLC1 gene were identified as the genetic cause of HLP. The detected variants were frameshift or splicing variants, leading to reduced SPTLC1 protein levels. Diminished SPTLC1, the key enzyme in sphingolipid biosynthesis, contributes to the development of HLP.
BRITISH JOURNAL OF DERMATOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Paola Fortugno, Rosanna Monetta, Valeria Cinquina, Chiara Rigon, Francesca Boaretto, Chiara De Luca, Nicoletta Zoppi, Luana Di Leandro, Emanuela De Domenico, Arianna Di Daniele, Rodolfo Ippoliti, Francesco Angelucci, Ernesto Di Cesare, Ruggero De Paulis, Leonardo Salviati, Marina Colombi, Francesco Brancati, Marco Ritelli
Summary: Pathogenic variants in TGFBR1 are a common cause of Loeys-Dietz syndrome (LDS) characterized by life-threatening cardiovascular diseases. In this study, two novel variants in TGFBR1 were identified in LDS patients, resulting in truncated TGFBR1 proteins. These variants escaped nonsense-mediated mRNA decay and exhibited enhanced TGF beta signaling. The findings emphasize the importance of functional studies for accurate clinical diagnosis.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Biochemistry & Molecular Biology
Francesca Piceci-Sparascio, Lucia Micale, Barbara Torres, Valentina Guida, Federica Consoli, Isabella Torrente, Annamaria Onori, Emanuela Frustaci, Maria Cecilia D'Asdia, Francesco Petrizzelli, Laura Bernardini, Cecilia Mancini, Fiorenza Soli, Dario Cocciadiferro, Daniele Guadagnolo, Gioia Mastromoro, Carolina Putotto, Franco Fontana, Nicola Brunetti-Pierri, Antonio Novelli, Antonio Pizzuti, Bruno Marino, Maria Cristina Digilio, Tommaso Mazza, Bruno Dallapiccola, Victor Luis Ruiz-Perez, Marco Tartaglia, Marco Castori, Alessandro De Luca
Summary: Deleterious variants of the DYNC2H1 gene are associated with a wide range of skeletal ciliopathies. Targeted parallel sequencing was used to analyze 25 families with unresolved molecular diagnoses. Deleterious DYNC2H1 variants were identified in six sporadic patients and two monozygotic twins. The clinical phenotypes displayed a variety of skeletal ciliopathy disorders, including EvC, mixed ATD/EvC, and short rib-polydactyly/EvC.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Genetics & Heredity
M. Cesana, L. Vaccaro, M. J. Larsen, M. Kibaek, L. Micale, S. Riccardo, P. Annunziata, C. Colantuono, L. Di Filippo, D. De Brasi, M. Castori, C. Fagerberg, F. Acquaviva, D. Cacchiarelli
Summary: This study applied integrated genomic approaches to identify a novel neuro-pathogenic role for the MAP4K4 gene by analyzing blood samples of two unrelated individuals with neurodevelopmental disorders. The study demonstrated the efficacy of exome and transcriptome sequencing in resolving undiagnosed cases.
Correction
Cardiac & Cardiovascular Systems
Silvia Castelletti, Alessandro Zorzi, Enrico Ballardini, Cristina Basso, Alessandro Biffi, Francesco Brancati, Elena Cavarretta, Lia Crotti, Maurizio Contursi, Antonio D'Aleo, Flavio D'Ascenzi, Pietro Delise, Antonio Dello Russo, Giovanni Gazale, Lucio Mos, Valeria Novelli, Zefferino Palama, Stefano Palermi, Vincenzo Palmieri, Giampiero Patrizi, Antonio Pelliccia, Kalliopi Pilichou, Silvio Romano, Patrizio Sarto, Peter J. Schwartz, Monica Tiberi, Paolo Zeppilli, Domenico Corrado, Luigi Sciarra
INTERNATIONAL JOURNAL OF CARDIOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Lucia Micale, Carmela Fusco, Grazia Nardella, Orazio Palmieri, Tiziana Latiano, Domenica Gioffreda, Francesca Tavano, Anna Panza, Antonio Merla, Giuseppe Biscaglia, Marco Gentile, Antonello Cuttitta, Marco Castori, Francesco Perri, Anna Latiano
Summary: This study explores the biological interaction between miR-200c-3p and PRKG1, SULF1, and SYDE1 genes and their potential involvement in the pathogenesis of achalasia. Results show that miR-200c-3p directly targets PRKG1 and indirectly affects SULF1 and SYDE1, suggesting the role of NO/cGMP/PKG signaling in achalasia.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Medicine, General & Internal
Silvia Morlino, Marco Castori
Summary: This article discusses the background and diagnostic classification of joint hypermobility (JHM) and related disorders, as well as the focus of research and future challenges.
BRITISH MEDICAL BULLETIN
(2023)
Article
Clinical Neurology
Mark A. Corbett, Christel Depienne, Liana Veneziano, Karl Martin Klein, Francesco Brancati, Renzo Guerrini, Federico Zara, Shoji Tsuji, Jozef Gecz
Summary: This review summarizes the history of genetic studies on Familial Adult Myoclonus Epilepsy (FAME) worldwide, covering the discovery of noncoding TTTTA and inserted TTTCA pentanucleotide repeat expansions within six different genes. FAME repeat expansions are dynamic in nature and have regional geographical distributions. Molecular diagnosis of FAME repeat expansions is challenging, requiring a trade-off between cost and efficiency. The discovery of FAME repeats will contribute to a better understanding of the molecular pathogenesis of FAME and the development of models for further research.
Review
Biochemistry & Molecular Biology
Malek Bouassida, Matthieu Egloff, Jonathan Levy, Nicolas Chatron, Laura Bernardini, Gwenael Le Guyader, Anne-Claude Tabet, Caroline Schluth-Bolard, Francesco Brancati, Maria Grazia Giuffrida, Rodolphe Dard, Juliette Clorennec, Juliette Coursimault, Francois Vialard, Berenice Herve
Summary: This study aimed to characterize the phenotypic spectrum of microduplications involving the MYT1L gene. Clinical features of patients with pure 2p25.3 microduplications were assessed, and the results showed variable phenotypes including developmental delays, autism spectrum disorders, intellectual disabilities, schizophrenia, and behavioral disorders. The study also revealed unknown genetic and nongenetic modifiers contributing to the incomplete penetrance and variable expressivity of these microduplications.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Genetics & Heredity
Judith Fischer, Alrun Hotz, Katalin Komlosi
Summary: Inherited ichthyoses are classified into non-syndromic and syndromic forms based on clinical and genetic features. Syndromic ichthyoses, which involve additional organs in addition to skin symptoms, are rare and can be further classified based on inheritance and predominant symptoms. Early diagnosis of syndromes is important for timely intervention and treatment, reproductive options, and access to genetic diagnosis.
MEDIZINISCHE GENETIK
(2023)
Article
Genetics & Heredity
Louiza Toutouna, Stefanie Beck-Woedl, Ursula Feige, Birgitta Glaeser, Katalin Komlosi, Matthias Eckenweiler, Niklas Luetzen, Tobias B. Haack, Judith Fischer, Ingrid Bader, Andreas Tzschach
Summary: In this study, we report a 6-year-old patient from a consanguineous family with profound developmental delay, microcephaly, and a history of a perinatal cerebrovascular event. The brain magnetic resonance imaging (MRI) showed cerebellar cystic defects, signal intensity abnormalities, and a hypoplastic corpus callosum. Trio-exome analysis revealed a homozygous in-frame deletion of Exons 23 and 24 of LAMB1 affecting 104 amino acids including the epidermal growth factor (EGF)-like units 11 and 12 in Domain III. Our findings expand the clinical and molecular spectrum of LAMB1-associated syndromes.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
