13 research outputs found
Deletions, not duplications or small mutations, are the predominante new mutations in the dystrophin gene
No full textNext-generation sequencing discloses a nonsense mutation in the dystrophin gene from long preserved dried umbilical cord and low-level somatic mosaicism in the proband mother
No full textHypermethylation of serotonin transporter gene in bipolar disorder detected by epigenome analysis of discordant monozygotic twins
No full textInterplay between DMD Point Mutations and Splicing Signals in Dystrophinopathy Phenotypes
No full textDe novo mutations in human genetic disease
No full textItem does not contain fulltextNew mutations have long been known to cause genetic disease, but their true contribution to the disease burden can only now be determined using family-based whole-genome or whole-exome sequencing approaches. In this Review we discuss recent findings suggesting that de novo mutations play a prominent part in rare and common forms of neurodevelopmental diseases, including intellectual disability, autism and schizophrenia. De novo mutations provide a mechanism by which early-onset reproductively lethal diseases remain frequent in the population. These mutations, although individually rare, may capture a significant part of the heritability for complex genetic diseases that is not detectable by genome-wide association studies
Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition
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