Figure 3.

Electropherograms of a control and the affected subject showing the homozygous variant c.467 + 1G > C. Genomic DNA was extracted from bone marrow cells of the proband using an automated nucleic acid purification platform (Maxwell® 16, Promega). The five coding exons of RAB27A gene and their flanking intronic regions were amplified by PCR with specific primers (available upon request) and then sequenced by Sanger Sequencing (ABI 3130 Genetic Analyser, Applied Biosistems). The cDNA analysis from total RNA isolated from pretransplantation bone marrow of the proband or from the parents’ peripheral blood sample could define the effect of germline mutations of RAB27A gene on its transcription.