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Lopergolo, Diego; Privitera, Flavia; Castello, Giuseppe; Lo Rizzo, Caterina; Mencarelli, Maria Antonietta; Pinto, Anna Maria; Ariani, Francesca; Currò, Aurora; Lamacchia, Vittoria; Canitano, Roberto; Vaghi, Elisabetta; Ferrarini, Alessandra; Baltodano, Gerardo Mejia; Lederer, Damien; Van Maldergem, Lionel; Serrano, Mercedes; Pineda, Mercè; Fons‐Estupina, Maria Del Carmen; Van Esch, Hilde; Breckpot, Jeroen; Kumps, Candy; Callewaert, Bert; Mueller, Sabrina; Ramelli, Gian Paolo; [...]

IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?

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  • Medientyp: E-Artikel
  • Titel: IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?
  • Beteiligte: Lopergolo, Diego; Privitera, Flavia; Castello, Giuseppe; Lo Rizzo, Caterina; Mencarelli, Maria Antonietta; Pinto, Anna Maria; Ariani, Francesca; Currò, Aurora; Lamacchia, Vittoria; Canitano, Roberto; Vaghi, Elisabetta; Ferrarini, Alessandra; Baltodano, Gerardo Mejia; Lederer, Damien; Van Maldergem, Lionel; Serrano, Mercedes; Pineda, Mercè; Fons‐Estupina, Maria Del Carmen; Van Esch, Hilde; Breckpot, Jeroen; Kumps, Candy; Callewaert, Bert; Mueller, Sabrina; Ramelli, Gian Paolo; [...]
  • Erschienen: Wiley, 2021
  • Erschienen in: Clinical Genetics
  • Sprache: Englisch
  • DOI: 10.1111/cge.13908
  • ISSN: 0009-9163; 1399-0004
  • Schlagwörter: Genetics (clinical) ; Genetics
  • Entstehung:
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  • Beschreibung: <jats:title>Abstract</jats:title><jats:p><jats:italic>IQSEC2</jats:italic> mutations are associated with <jats:italic>IQSEC2</jats:italic>‐related intellectual disability (ID). Phenotypic spectrum has been better defined in the last few years by the increasing number of reported cases although the genotype–phenotype relationship for <jats:italic>IQSEC2</jats:italic> remains overall complex. As for <jats:italic>IQSEC2</jats:italic>‐related ID a wide phenotypic diversity has been described in Rett syndrome (RTT). Several patients harboring <jats:italic>IQSEC2</jats:italic> mutations present with clinical symptoms similar to RTT and some cases meet most of the criteria for classic RTT. With the aim of establishing a genotype–phenotype correlation, we collected data of 16 patients harboring <jats:italic>IQSEC2</jats:italic> point mutations (15 of them previously unreported) and of five novel patients carrying CNVs encompassing <jats:italic>IQSEC2</jats:italic>. Most of our patients surprisingly shared a moderate‐to‐mild phenotype. The similarities in the clinical course between our mild cases and patients with milder forms of atypical RTT reinforce the hypothesis that also <jats:italic>IQSEC2</jats:italic> mutated patients may lay under the wide clinical spectrum of RTT and thus <jats:italic>IQSEC2</jats:italic> should be considered in the differential diagnosis. Our data confirm that position, type of variant and gender are crucial for <jats:italic>IQSEC2</jats:italic>‐associated phenotype delineation.</jats:p>