Novel 14q11.2 microduplication including the CHD8 and SUPT16H genes associated with developmental delay. Issue 5 (2nd February 2016)

• Record Type: Journal Article
• Authors: Smyk, Marta; Poluha, Anna; Jaszczuk, Ilona; Bartnik, Magdalena; Bernaciak, Joanna; Nowakowska, Beata
• Is Part Of: American journal of medical genetics. Volume 170:Issue 5(2016)
• Page Start: 1325
• Page End: 1329
• Publication Date: 2016-02-02
• Subjects: microduplication 14q11.2 -- CHD8 gene -- SUPT16H gene -- developmental delay; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.37579
• Languages: English
• ISSNs: 1552-4825

Abstract

Abstract : Neurodevelopmental disorders have long been associated with chromosomal abnormalities, including microdeletions and microduplications. Submicroscopic 14q11.2 deletions involving the CHD8 and SUPT16H genes have been reported in patients with developmental delay (DD)/intellectual disability (ID) or autism spectrum disorders (ASDs) and/or macrocephaly. Recently, disruptive CHD8 mutations were described in patients with similar phenotypes further showing pivotal role of CHD8 gene in the pathogenesis of DD/ID or ASDs. We report here the first case of ∼445 kb de novo microduplication, encompassing the minimal critical 14q11.2 deletion region, in 8‐year‐old boy showing DD, cognitive impairment and facial dysmorphism. Our results suggest that gain of the chromosomal region 14q11.2 is causative for clinical findings present in the patient. © 2016 Wiley Periodicals, Inc.