Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients
The study confirmed the ability of the method to accurately identify methylation profiles compatible with FSHD genetic signatures considering the 4q genotype. Moreover, the test allows the detection of hypomethylated profiles in asymptomatic patients, suggesting its potential application in identifying preclinical conditions in patients with positive family history and FSHD genetic signatures. Furthermore, the present work emphasizes the importance of interpreting methylation profiles considering the patients' clinical data.
Authors
- Mauro Monforte (ORCID: https://orcid.org/0000-0002-4327-6969)
- Roberto Massa (ORCID: https://orcid.org/0000-0001-7523-6956)
- Gabriele Siciliano (ORCID: https://orcid.org/0000-0002-6142-2384)
- Stefano Carlo Previtali (ORCID: https://orcid.org/0000-0003-2546-4357)
- Matteo Garibaldi (ORCID: https://orcid.org/0000-0003-1830-2886)
- Valeria Sansone (ORCID: https://orcid.org/0000-0002-1354-3800)
- Valeria Gioiosa (ORCID: https://orcid.org/0009-0003-1803-5279)
- Carlo Caltagirone (ORCID: https://orcid.org/0000-0002-0189-4515)
- Claudia Strafella (ORCID: https://orcid.org/0000-0003-1334-0920)
- Elisabetta Manfroi
- Tiziana Mongini (ORCID: https://orcid.org/0000-0003-4061-4261)
- Luca Colantoni
- Massimiliano Filosto (ORCID: https://orcid.org/0000-0002-2852-7512)
- Sara Bortolani (ORCID: https://orcid.org/0000-0002-6472-0563)
- Marianna Scutifero
- G Gadaleta (ORCID: https://orcid.org/0000-0001-6563-8222)
- Paola Mandich (ORCID: https://orcid.org/0000-0003-3123-3512)
- Barbara Risi (ORCID: https://orcid.org/0009-0008-2303-1180)
- Stefania Zampatti (ORCID: https://orcid.org/0000-0003-2502-7157)
- Eleonora Torchia (ORCID: https://orcid.org/0000-0003-1965-6483)
- Antonio Petrucci (ORCID: https://orcid.org/0000-0001-7950-4970)
- Filomena Caria
- Guido Primiano (ORCID: https://orcid.org/0000-0001-7616-7008)
- Domenica Megalizzi (ORCID: https://orcid.org/0000-0001-9517-0165)
- Marina Grandis (ORCID: https://orcid.org/0000-0001-6637-4425)
- Elena Maria Pennisi (ORCID: https://orcid.org/0000-0002-0600-6855)
- Marika Pane (ORCID: https://orcid.org/0000-0002-4851-6124)
- Liliana Vercelli (ORCID: https://orcid.org/0000-0001-8352-1087)
- Emiliano Giardina (ORCID: https://orcid.org/0000-0002-2741-5009)
- Maria Antonietta Maioli
- Francesca Gerardi (ORCID: https://orcid.org/0000-0002-2743-244X)
- Raffaella Cascella (ORCID: https://orcid.org/0000-0002-2148-0758)
- Carmelo Rodolico (ORCID: https://orcid.org/0000-0003-2543-6356)
- Giorgio Tasca (ORCID: https://orcid.org/0000-0003-0849-9144)
- Elena Carraro (ORCID: https://orcid.org/0000-0002-1259-1050)
- Laura Tufano
- Carlo Casali (ORCID: https://orcid.org/0000-0002-8819-9274)
- Francesca Gragnani
- Giulia Ricci (ORCID: https://orcid.org/0000-0002-6612-5995)
- Giulia Trastulli (ORCID: https://orcid.org/0000-0002-5056-5099)
- Erica Frezza (ORCID: https://orcid.org/0000-0003-3839-3156)
- Luigia Passamano
- Luisa Politano (ORCID: https://orcid.org/0000-0002-0925-7158)
- Roberta Petillo (ORCID: https://orcid.org/0000-0003-4543-3953)
- Enzo Ricci (ORCID: https://orcid.org/0000-0003-3092-3597)
- Emma Proietti Piorgo
- Alessia Pugliese (ORCID: https://orcid.org/0009-0002-9303-9299)
- Francesca Torri (ORCID: https://orcid.org/0000-0002-1731-3500)
- Cristina Sancricca
- Annalia Frongia
- Beatrice Ravera
Institutions
- Università Cattolica del Sacro Cuore (IT)
- University of Pisa (IT)
- University of Messina (IT)
- University of Rome Tor Vergata (IT)
- Vita-Salute San Raffaele University (IT)
- University of Milan (IT)
- University of Campania "Luigi Vanvitelli" (IT)
- Santa Maria Nuova Hospital (IT)
- Newcastle upon Tyne Hospitals NHS Foundation Trust (GB)
- Agostino Gemelli University Polyclinic (IT)
- Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (IT)
- Ospedale Maggiore (IT)
- Ospedale Antonio Cardarelli (IT)
- Associazione Italiana Sclerosi Multipla (IT)
- Azienda Ospedaliera San Camillo-Forlanini (IT)
- Ospedale San Filippo Neri (IT)
- Catholic University Our Lady of Good Counsel (AL)
- Centro Clinico Nemo (IT)
- CTO Andrea Alesini (IT)
- Ospedale Sandro Pertini (IT)
- Ospedale Policlinico San Martino (IT)
- Fondazione Santa Lucia (IT)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
- Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele (IT)
- University of Brescia (IT)
- University of Genoa (IT)
- Newcastle University (GB)
- Sapienza University of Rome (IT)
Publication Details
- Journal
- Clinical Epigenetics
- Published
- 2024-10-22
- DOI
- https://doi.org/10.1186/s13148-024-01747-2
- Citations
- 9
- Primary Topic
- Congenital heart defects research
- Type
- article
- Field-Weighted Citation Impact
- 2.10