Johannes G. Dauwerse

TL;DR: It is shown that FSHD patients carry specific single-nucleotide polymorphisms in the chromosomal region distal to the last D4Z4 repeat that creates a canonical polyadenylation signal for transcripts derived from DUX4, a double homeobox gene of unknown function that straddles the last repeat unit and the adjacent sequence.

TL;DR: These findings identify two additional genes involved in TCS, confirm the genetic heterogeneity of TCS and support the hypothesis that TCS is a ribosomopathy.

TL;DR: The findings of a partial 5' deletion and of interstitial deletions of the CBP gene add to the known spectrum of mutations of this gene in RTS and demonstrate the need for evaluation of the entireCBP gene region for deletions rather than only the 3' region in R TS patients.

TL;DR: Although community-dwelling individuals harboring a cysteine-altering NotCH3 variant have a higher small vessel disease MRI burden than controls, almost half have no MRI abnormalities up to age 70 years, which shows that NOTCH3 cysteines altering variants are associated with an extremely broad phenotypic spectrum, ranging from CADASIL to nonpenetrance.

TL;DR: Two novel NOTCH3 mutations, both leading to a premature stop codon with predicted loss of NotCH3 function, are reported, which indicate that hypomorphicnotCH3 alleles do not cause CADASIL.