Fig. 6

Characterization of the c.1140 + 1G > C variant in BRIP1 at RNA level. The amplified PCR products were separated by a 2% agarose gel electrophoresis to detect the possible aberrant transcripts. Then, Sanger sequencing confirmed the different exon exclusions. The c.1140 + 1G > C variant in BRIP1 caused the skipping of exon 8, resulting in a product which is 222 nucleotides shorter than the full-length product (879 nucleotides)