Figure 5. cDNA studies on fibroblast cell lines from patients and parents.

(A) PCR products run on an agarose gel following amplification of exons 12–14 of SLC12A2. Wild-type products are 274 bp in length and products lacking exon 13 are 172 bp long. (B) Schematic diagram and partial electropherogram showing skipping of exon 13 as a result of a defect in splicing due to the presence of the c.2006-1G>A variant. cDNA = complementary DNA.