Fig. 14

FLNB transcript analysis in patient 5 with the heterozygous mutation c.2055G > C. a FLNB transcript analysis was performed using lymphocyte-derived RNA of the patient (P) and a healthy individual (C+). The 294-bp wild-type RT-PCR amplicon was amplified in both the patient and the control (C+), while no product was yielded in the negative control (C-, no template). A second, larger PCR product of ~330 bp was only obtained in the patient (P). The 500, 400 and 300 bp reference bands of the molecular marker (M) are indicated. b Sequence trace of the exon 13 (blue box)-exon 14 (green box) junction in a healthy individual. c Sequence trace of the smaller PCR product (294 bp) of patient 5 revealed wild-type sequence at the exon 13-exon 14 junction. Note the guanine as the last nucleotide in exon 13. d Sequence trace of the larger RT-PCR amplicon (321 bp) of the patient showed the mutant base cytosine at the last position of exon 13 (changing the codon for glutamine to histidine [indicated in red]) and an in-frame inclusion of the first 27 bp of intron 13 (orange box; codons for nine FLNB-unrelated amino acid residues are highlighted in red). Codons are underlined and amino acid residues are indicated in the three-letter code above each electropherogram