Fig. 2

mRNA analysis of mutation c.1075G > A identified in Patient 4. a RT-PCR of KAT6A fragment including exon 5 to 8 in the patient (P), his mother (M) and father (F), and a control sample (C+). b Schematic representation of the normal (upper) and aberrant (lower) splicing of KAT6A exons 5 to 8 and chromatogram of exon 6–8 joining point in the smaller band of the patient. c Chromatograms of the mRNA amplification products in the mother and the patient upper band