Fig. 2: Intronic mutation-induced splicing abnormality in the patient.
From: Novel HADHB mutations in a patient with mitochondrial trifunctional protein deficiency
a Schematic representation of the strategy used to detect aberrant HADHB transcripts by PCR using a forward primer for exon 8 and a reverse primer for exon 12. The intronic exonized region is shown in the black box (insertion of 81 bp in intron 9). The c.811 + 82A>G variant creates a new cryptic 5′ splice site. Amplified transcripts from the patient were characterized by predominance of the 81-bp sequence of HADHB, resulting in a 583-bp amplicon. Transcripts from the control fibroblasts showed only the predicted wild-type amplicon size of 502 bp. b The patient and his mother carried the c.811 + 82A>G HADHB mutation. The other allele of the patient contained the exons 6–9 deletion, whereas the mother was heterozygous for c.811 + 82A>G and did not carry the deletion. The father was hemizygous for wild-type c.811 + 82A because his other allele contained the exons 6–9 deletion.
