Abstract
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.
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Acknowledgements
We gratefully acknowledge the following: Alexis Leurent, Heidi Tampere, Delphine Ceraso and Karine Baroli for technical support; European Reference Network ERN-ITHACA; Pr Nigel Quayle for manuscript editing. Also, we thank patients and families who contributed to this study.
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Smol, T., Thuillier, C., Boudry-Labis, E. et al. Neurodevelopmental phenotype associated with CHD8-SUPT16H duplication. Neurogenetics 21, 67–72 (2020). https://doi.org/10.1007/s10048-019-00599-w
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DOI: https://doi.org/10.1007/s10048-019-00599-w