Neurodevelopmental phenotype associated with CHD8-SUPT16H duplication

AbstractMicrodeletions encompassing 14q11.2locus, involvingSUPT16H andCHD8, were shown to cause developmental delay, intellectual disability, autism spectrum disorders and macrocephaly. Variations leading toCHD8 haploinsufficiency or loss of function were also shown to lead to a similar phenotype. Recently, a 14q11.2 microduplication syndrome, encompassingCHD8 andSUPT16H, has been described, highlighting the importance of a tight control of at leastCHD8 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 encompassingCHD8 andSUPT16H, 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.
Source: Neurogenetics - Category: Genetics & Stem Cells Source Type: research