Fig. 3.

Splicing alteration caused by the c.765G > T variant detected in Pt 12 at a heterozygous state.

A. Correct splicing event. The wild type nucleotide that is changed in the aberrant m-RNA product is underlined. B. Aberrant splicing event, consisting of a 31 nucleotide deletion in exon 6, due to an additional donor site. Dotted lines indicate a different coding frame occurring in the aberrant splicing product. The nucleotide change is underlined. C. Normal sequence analysis of exon 6 from m-RNA analysis performed in normal controls D. Aberrant splicing from Pt12 m-RNA analysis.