Fig. 2.

A splicing mutation in the PPARA gene

(a) (left) Normal splicing between adjacent exons. (right) Aberrant splicing and skipping of exon due to the deletion c.209–2delA. The deletion elicits a loss of universal splicing acceptor consensus sequence from the transcript and consequently results in exon 4 skipping.

(b) The products of reverse transcription-polymerase chain reaction (RT-PCR) obtained from total RNA of the hair follicle cells. The smaller fragment was derived from exon 4-excluded transcripts. cDNAs from three Japanese subjects without the same variant were analyzed as healthy controls.

(c) The small fragment was directly sequenced.