Alexander M. Zink

TL;DR: The large number of de-novo variants in known intellectual disability genes is only partially attributable to known non-specific phenotypes, suggesting a strong bias in present clinical syndrome descriptions.

TL;DR: Mutational analysis in 887 unselected patients with unexplained ID indicates that haploinsufficiency of ARID1B, a member of the SWI/SNF-A chromatin-remodeling complex, is a common cause of ID, and it is added to the growing evidence that Chromatin- Remodeling defects are an important contributor to neurodevelopmental disorders.

TL;DR: At least one other gene contained in the commonly deleted region, LYSMD3, shows a high level of central nervous expression during embryogenesis and is a good candidate gene for other central nervous system (CNS) symptoms, such as psychomotor retardation, brain anomalies and muscular hypotonia of the 5q14.3-q15.3 microdeletion 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: The broad phenotypic spectrum and pathobiochemistry of individuals with autosomal‐recessive ECHS1 deficiency is described.