Figure 1

Result of direct sequencing of DNA and mRNA and splicing assay. (a) Sequence analysis of Cullin 3 DNA in the index patient. In the patient (PT), the last guanine (G) of exon 9 of the Cullin 3 in the wild type (WT) was displaced to cytosine (C). (b) Sequence analysis of Cullin 3 mRNA in the index patient. In the wild type (WT), exon 8 is followed by exon 9 in Cullin 3 mRNA. In contrast, exon 10 is present just after exon 8 as exon 9 is skipped in the patient (PT). (c) Reverse Transcription Polymerase Chain Reaction (RT-PCR) of Cullin 3 mRNA in the index patient. RT-PCR of Cullin 3 mRNA demonstrated a smaller molecular weight band (390 bp) only in the patient (PT) in addition to the band (561bp) observed in the wild type (WT). The smaller band is considered a product of the skipping of exon 9.