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Ostrowski, Philip J.; Zachariou, Anna; Loveday, Chey; Beleza‐Meireles, Ana; Bertoli, Marta; Dean, John; Douglas, Andrew G. L.; Ellis, Ian; Foster, Alison; Graham, John M.; Hague, Jennifer; Hilhorst‐Hofstee, Yvonne; Hoffer, Mariette; Johnson, Diana; Josifova, Dragana; Kant, Sarina G.; Kini, Usha; Lachlan, Katherine; Lam, Wayne; Lees, Melissa; Lynch, Sally; Maitz, Silvia; McKee, Shane; Metcalfe, Kay; [...]

The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients

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  • Medientyp: E-Artikel
  • Titel: The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients
  • Beteiligte: Ostrowski, Philip J.; Zachariou, Anna; Loveday, Chey; Beleza‐Meireles, Ana; Bertoli, Marta; Dean, John; Douglas, Andrew G. L.; Ellis, Ian; Foster, Alison; Graham, John M.; Hague, Jennifer; Hilhorst‐Hofstee, Yvonne; Hoffer, Mariette; Johnson, Diana; Josifova, Dragana; Kant, Sarina G.; Kini, Usha; Lachlan, Katherine; Lam, Wayne; Lees, Melissa; Lynch, Sally; Maitz, Silvia; McKee, Shane; Metcalfe, Kay; [...]
  • Erschienen: Wiley, 2019
  • Erschienen in: American Journal of Medical Genetics Part C: Seminars in Medical Genetics
  • Sprache: Englisch
  • DOI: 10.1002/ajmg.c.31749
  • ISSN: 1552-4876; 1552-4868
  • Entstehung:
  • Anmerkungen:
  • Beschreibung: <jats:title>Abstract</jats:title><jats:p><jats:italic>CHD8</jats:italic> has been reported as an autism susceptibility/intellectual disability gene but emerging evidence suggests that it additionally causes an overgrowth phenotype. This study reports 27 unrelated patients with pathogenic or likely pathogenic <jats:italic>CHD8</jats:italic> variants (25 null variants, two missense variants) and a male:female ratio of 21:6 (3.5:1, <jats:italic>p</jats:italic> &lt; .01). All patients presented with intellectual disability, with 85% in the mild or moderate range, and 85% had a height and/or head circumference ≥2 standard deviations above the mean, meeting our clinical criteria for overgrowth. Behavioral problems were reported in the majority of patients (78%), with over half (56%) either formally diagnosed with an autistic spectrum disorder or described as having autistic traits. Additional clinical features included neonatal hypotonia (33%), and less frequently seizures, <jats:italic>pes planus</jats:italic>, scoliosis, fifth finger clinodactyly, umbilical hernia, and glabellar hemangioma (≤15% each). These results suggest that, in addition to its established link with autism and intellectual disability, <jats:italic>CHD8</jats:italic> causes an overgrowth phenotype, and should be considered in the differential diagnosis of patients presenting with increased height and/or head circumference in association with intellectual disability.</jats:p>