German Melean

TL;DR: In this paper, a method for detecting germline mutations was developed by combining an original RNA-based cDNA-PCR mutation detection method and denaturing high-performance liquid chromatography (DHPLC) with multiplex ligation-dependent probe amplification (MLPA).

TL;DR: The results indicate that this protocol is a powerful new tool for the molecular diagnosis of NF1, and its efficiency and reliability facilitate detection of different types of mutations, including single-base substitutions, deletions or insertions of one to several nucleotides, microdeletions, and changes in intragenic copy number.

TL;DR: The results highlight the importance of RNA-based studies to characterize SMAR CB1 germline mutations in order to determine their impact on protein expression and gain further insight into the genetic basis of conditions associated with SMARCB1 mutations.

TL;DR: These cases suggest that the events involved in the transformation of benign plexiform neurofibromas to MPNSTs in Neurofibomatosis type 1, follow a spatiotemporally programme that is influenced by heritable factors other than NF1 mutations.

TL;DR: The complexity of the splicing regulatory elements present in exon 9 of NF1 is most likely responsible for the fact that mutations in this region represent 25% of all exonic changes that affect splicing in the NF1 gene.