20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition
Intellectual disability (ID) is characterized by an extraordinary genetic heterogeneity, with >250 genes that have been implicated in monogenic forms of ID. Because this complexity precluded systematic testing for mutations and because clinical features are often non-specific, for some of these genes only few cases or families have been unambiguously documented. It is the case of the X-linked gene encoding monoamine oxidase A (MAOA), for which only one nonsense mutation has been identified in Brunner syndrome, characterized in a single family by mild non-dysmorphic ID and impulsive, violent and aggressive behaviors. We have performed targeted high-throughput sequencing of 220 genes, includi…
Determination of 14-3-3 protein levels in cerebrospinal fluid from Creutzfeldt-Jakob patients by a highly sensitive capture assay.
The level of 14-3-3gamma protein was determined in the cerebrospinal fluid (CSF) from patients with Creutzfeldt-Jakob disease (CJD) and non-CJD patients applying a new and fast microplate assay (14-3-3 protein capture assay), based on the binding to a peptide comprising a phosphorylated recognition motif of 14-3-3 protein. The levels of the gamma-isoform of 14-3-3 protein in CSF samples from CJD patients (n=41) were significantly higher than those observed in patients with non-CJD dementias (n=36) suggesting that this capture assay is a reliable method in the diagnosis of CJD. Since this assay allows the direct measurement of 14-3-3 protein in the CSF without prior concentration it is an ea…