B W M van Bon

TL;DR: The findings broaden the phenotypic spectrum associated with 15q13.3 deletions and suggest that, in some individuals, deletion of 15q 13.3 is not sufficient to cause disease.

TL;DR: Nine predicted pathogenic, hemizygous variants on chromosome X in two known disease genes, L1CAM and PAK3, and in two novel candidate CP genes were identified, and half were in novel genes.

TL;DR: It is concluded that mutations in DYRK1A define a syndromic form of ASD and ID with neurodevelopmental defects consistent with murine and Drosophila knockout models.

TL;DR: Patients with multiple CNVs presented with a more severe phenotype than patients with a single CNV, pointing to a combinatorial effect of the additional CNVs, and 20 de novo single‐gene CNVs that directly indicate novel genes for ID/MCA are identified.

TL;DR: It is investigated whether smaller copy number variations (CNVs), below the routine diagnostic threshold set at 150 kb, may be present at the DYRK1A locus and whether several features in this patient, such as severe developmental delay, growth retardation, nonfluent motoric movements, microcephaly in the absence of structural brain anomalies, hypoactivity and anxious behavior, show a striking similarity with features observed in different animal models with mutated DYRk1A.