Karen Snow

TL;DR: Analysis of 84 human X chromosomes for the presence of interrupting AGG trinucleotides within the CGG repeat tract of the FMR1 gene revealed that most alleles possess two interspersed AGGs and that the longest tract of uninterrupted CGG repeats is usually found at the 3′ end.

TL;DR: Describing a CGG repeat at the FMR-1 locus in more than 100 families presenting for fragile X testing and in 247 individuals from the general population suggests that the frequency of unstable alleles in the generalpopulation may be approximately 1%.

TL;DR: Mutation analysis on samples from 143 unrelated affected NPC patients is described using conformation sensitive gel electrophoresis and DNA sequencing as the primary mutation screening methods for NPC1 and NPC2, respectively, which raise the possibilities of an additional NPC complementation group(s) or non‐specificity of the biochemical testing for NPC.

TL;DR: Results suggest that evolution of fragile X full mutations could involve 4 definable stages: 1) ancestral events leading to the formation of predisposing alleles which have large total repeat length (e.g. between 35 to 50) but no AGG or 1 AGG; 2) gradual slippage of these predisposingalleles to small premutations (S alleles); 3) conversion from S alleles to larger premutations; 4) massive expansion from a Z allele to a full mutation

TL;DR: It is demonstrated that NPC-variant fibroblast samples can be detected as sphingolipid storage disease cells, using a fluorescent sphingoipid analog, BODIPY-lactosylceramide, and found that 5 of the 12 variant cell samples had no apparent defect in NPC1 but were otherwise indistinguishable from other variant cells.