Raimund Fahsold

TL;DR: Neither frequent deamination of 5-methylcytosines nor interchromosomal gene conversion may account for the high mutation rate of the NF1 gene, as determined in this study.

TL;DR: Calculations of minimum-free-energy structures of the respective regions suggest that both changes in the secondary structure of the mRNA and creation or disruption of exonic sequences relevant for the splicing process might in fact cause these different splice phenomena observed in the NF1 gene.

TL;DR: It is demonstrated that typical NF1 null mutations can result in a phenotype that is distinct from classical NF1, showing only a small spectrum of the NF1 symptoms, but not completely fitting the current clinical criteria for SNF.

TL;DR: The recurrent 4 bp deletion was found as a second hit in a malignant schwannoma of a further NF1 patient, suggesting that microlesions may be as frequent among somatic as among germline mutations.

TL;DR: A constitutional G to A transition in the proximal 3′ untranslated region of isoforms 1 and 2 was identified in the patient’s NF2 gene and shown not to affect differential splicing or mRNA stability.