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Strafella, Claudia; Colantoni, Luca; Megalizzi, Domenica; Trastulli, Giulia; Piorgo, Emma Proietti; Primiano, Guido; Sancricca, Cristina; Ricci, Giulia; Siciliano, Gabriele; Caltagirone, Carlo; Filosto, Massimiliano; Tasca, Giorgio; Ricci, Enzo; Cascella, Raffaella; Giardina, Emiliano

Characterization of D4Z4 alleles and assessment of de novo cases in Facioscapulohumeral dystrophy (FSHD) in a cohort of Italian families

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  • Medientyp: E-Artikel
  • Titel: Characterization of D4Z4 alleles and assessment of de novo cases in Facioscapulohumeral dystrophy (FSHD) in a cohort of Italian families
  • Beteiligte: Strafella, Claudia; Colantoni, Luca; Megalizzi, Domenica; Trastulli, Giulia; Piorgo, Emma Proietti; Primiano, Guido; Sancricca, Cristina; Ricci, Giulia; Siciliano, Gabriele; Caltagirone, Carlo; Filosto, Massimiliano; Tasca, Giorgio; Ricci, Enzo; Cascella, Raffaella; Giardina, Emiliano
  • Erschienen: Wiley, 2023
  • Erschienen in: Clinical Genetics
  • Sprache: Englisch
  • DOI: 10.1111/cge.14466
  • ISSN: 0009-9163; 1399-0004
  • Schlagwörter: Genetics (clinical) ; Genetics
  • Entstehung:
  • Anmerkungen:
  • Beschreibung: <jats:title>Abstract</jats:title><jats:p>Facioscapulohumeral dystrophy (FSHD) is an autosomal dominant disease, although 10%–30% of cases are sporadic. However, this percentage may include truly de novo patients (carrying a reduced <jats:italic>D4Z4</jats:italic> allele that is not present in either of the parents) and patients with apparently sporadic disease resulting from mosaicism, non‐penetrance, or complex genetic situations in either patients or parents. In this study, we characterized the <jats:italic>D4Z4</jats:italic> Reduced Alleles (DRA) and evaluated the frequency of truly de novo cases in FSHD1 in a cohort of DNA samples received consecutively for FSHD‐diagnostic from 100 Italian families. The <jats:italic>D4Z4</jats:italic> testing revealed that 60 families reported a DRA compatible with FSHD1 (1–10 RU). The DRA co‐segregated with the disease in most cases. Five families with truly de novo cases were identified, suggesting that this condition may be slightly lower (8%) than previously reported. In addition, <jats:italic>D4Z4</jats:italic> characterization in the investigated families showed 4% of mosaic cases and 2% with translocations. This study further highlighted the importance of performing family studies for clarifying apparently sporadic FSHD cases, with significant implications for genetic counseling, diagnosis, clinical management, and procreative choices for patients and families.</jats:p>