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Duerinckx, Sarah; Désir, Julie; Perazzolo, Camille; Badoer, Cindy; Jacquemin, Valérie; Soblet, Julie; Maystadt, Isabelle; Tunca, Yusuf; Blaumeiser, Bettina; Ceulemans, Berten; Courtens, Winnie; Debray, François‐Guillaume; Destree, Anne; Devriendt, Koenraad; Jansen, Anna; Keymolen, Kathelijn; Lederer, Damien; Loeys, Bart; Meuwissen, Marije; Moortgat, Stéphanie; Mortier, Geert; Nassogne, Marie‐Cécile; Sekhara, Tayeb; Van Coster, Rudy; [...]

Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly: High incidence of epilepsy

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  • Medientyp: E-Artikel
  • Titel: Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly: High incidence of epilepsy
  • Beteiligte: Duerinckx, Sarah; Désir, Julie; Perazzolo, Camille; Badoer, Cindy; Jacquemin, Valérie; Soblet, Julie; Maystadt, Isabelle; Tunca, Yusuf; Blaumeiser, Bettina; Ceulemans, Berten; Courtens, Winnie; Debray, François‐Guillaume; Destree, Anne; Devriendt, Koenraad; Jansen, Anna; Keymolen, Kathelijn; Lederer, Damien; Loeys, Bart; Meuwissen, Marije; Moortgat, Stéphanie; Mortier, Geert; Nassogne, Marie‐Cécile; Sekhara, Tayeb; Van Coster, Rudy; [...]
  • Erschienen: Wiley, 2021
  • Erschienen in: Molecular Genetics & Genomic Medicine
  • Sprache: Englisch
  • DOI: 10.1002/mgg3.1768
  • ISSN: 2324-9269
  • Schlagwörter: Genetics (clinical) ; Genetics ; Molecular Biology
  • Entstehung:
  • Anmerkungen:
  • Beschreibung: <jats:title>Abstract</jats:title><jats:sec><jats:title>Background</jats:title><jats:p>Primary microcephaly (PM) is defined as a significant reduction in occipitofrontal circumference (OFC) of prenatal onset. Clinical and genetic heterogeneity of PM represents a diagnostic challenge.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>We performed detailed phenotypic and genomic analyses in a large cohort (n = 169) of patients referred for PM and could establish a molecular diagnosis in 38 patients.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>Pathogenic variants in <jats:italic>ASPM</jats:italic> and <jats:italic>WDR62</jats:italic> were the most frequent causes in non‐consanguineous patients in our cohort. In consanguineous patients, microarray and targeted gene panel analyses reached a diagnostic yield of 67%, which contrasts with a much lower rate in non‐consanguineous patients (9%). Our series includes 11 novel pathogenic variants and we identify novel candidate genes including <jats:italic>IGF2BP3</jats:italic> and <jats:italic>DNAH2</jats:italic>. We confirm the progression of microcephaly over time in affected children. Epilepsy was an important associated feature in our PM cohort, affecting 34% of patients with a molecular confirmation of the PM diagnosis, with various degrees of severity and seizure types.</jats:p></jats:sec><jats:sec><jats:title>Conclusion</jats:title><jats:p>Our findings will help to prioritize genomic investigations, accelerate molecular diagnoses, and improve the management of PM patients.</jats:p></jats:sec>
  • Zugangsstatus: Freier Zugang