Neurodevelopmental phenotype associated with CHD8-SUPT16H duplication.
Thomas SmolCaroline ThuillierElise Boudry-LabisAnne Dieux-CoeslierBénédicte Duban-BeduRoseline CaumesSonia BouquillonSylvie Manouvrier-HanuCatherine Roche-LestienneJamal GhoumidPublished in: Neurogenetics (2019)
Microdeletions encompassing 14q11.2 locus, involving SUPT16H and CHD8, were shown to cause developmental delay, intellectual disability, autism spectrum disorders and macrocephaly. Variations leading to CHD8 haploinsufficiency or loss of function were also shown to lead to a similar phenotype. Recently, a 14q11.2 microduplication syndrome, encompassing CHD8 and SUPT16H, has been described, highlighting the importance of a tight control of at least CHD8 gene-dosage for a normal development. There have been only a few reports of 14q11.2 microduplications. Patients showed variable neurodevelopmental issues of variable severity. Breakpoints of the microduplications were non-recurrent, making interpretation of the CNV and determination of their clinical relevance difficult. Here, we report on two patients with 14q11.2 microduplication encompassing CHD8 and SUPT16H, one of whom had normal intelligence. Review of previous reports describing patients with comparable microduplications allowed for a more precise delineation of the condition and widening of the phenotypic spectrum.
Keyphrases
- intellectual disability
- autism spectrum disorder
- end stage renal disease
- newly diagnosed
- ejection fraction
- chronic kidney disease
- prognostic factors
- gene expression
- dna methylation
- adverse drug
- mass spectrometry
- transcription factor
- patient reported outcomes
- genome wide identification
- genome wide association study