European journal of human genetics : EJHG
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Eur. J. Hum. Genet. · Jun 2015
Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome.
Intellectual disability (ID) has an estimated prevalence of 2-3%. Due to its extreme heterogeneity, the genetic basis of ID remains elusive in many cases. Recently, whole exome sequencing (WES) studies revealed that a large proportion of sporadic cases are caused by de novo gene variants. ⋯ In silico domain prediction of SETD5, a predicted SET domain-containing histone methyltransferase (HMT), substantiated the presence of a SET domain and identified a novel putative PHD domain, strengthening a functional link to well-known histone-modifying ID genes. All six patients presented with ID and certain facial dysmorphisms, suggesting that SETD5 sequence variants contribute substantially to the microdeletion 3p25.3 phenotype. The present report of two SETD5 LoF variants in 301 patients demonstrates a prevalence of 0.7% and thus SETD5 variants as a relatively frequent cause of ID.
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Eur. J. Hum. Genet. · Jun 2015
Rethinking biobanking and translational medicine in the Netherlands: how the research process stands to matter for patient care.
Biobanking has been identified as one of the key components of translational medicine, and while current models for translation tend to focus their attention on how the products of research projects are fed back into health-care practices, we suggest that in addition to that the research process itself can have beneficial effects on the delivery of high-quality health care by streamlining diagnostic and follow-up protocols, reduced patient waiting times, and facilitating data comparison across patients. This Viewpoint is based on experiences with, and observations of, the neurodegenerative component of a clinical biobanking initiative in the Netherlands called the Parelsnoer Institute (PSI), which links all eight of the University Medical Centers for harmonized and standardized collection and storage processes for multiple disease conditions.