Eric Smeets

TL;DR: The data double the number of M LL2 mutations in KS reported so far and widen the spectrum of MLL2 mutations and disease mechanisms in KS, finding two missense mutations located in the C‐terminal conserved functional domains of the protein.

TL;DR: A 21-year-old male with severe mental retardation, spastic tetraplegia, dystonia, apraxia and neurogenic scoliosis is presented and a history of early hypotonia evolving into severe spasticity, slowing of head growth, breathing irregularities and good visual interactive behaviour were highly suggestive of Rett syndrome.

TL;DR: The phenotypic characterization of 16 additional individuals with intellectual disability, motor delay and speech impairment and abnormal muscle tone are reported, expanding and further establishing the clinical and mutational spectrum of inactivating CTNNB1 mutations and thereby clinically delineate this new CTNN B1 haploinsufficiency syndrome.

TL;DR: In females with hot spot deletions in the C‐terminus of the MECP2 gene, dystonia is present from childhood and results in a serious spine deformation in spite of preventive measures.

TL;DR: The largest cohort of KBG syndrome cases confirmed by ANKRD11 variants reported so far, consisting of 20 patients from 13 families, is presented, with consistent facial dysmorphisms comprising a bulbous nasal tip, upturned nose with a broad base and a round or triangular face.