Figure 1.

Heterozygous deletion of exons 5 and 6 in the patient's genomic DNA was detected by the MLPA assay (a). The mother had an identical MLPA result (data not shown). The patient and her mother's genomic DNA produced heterozygous PCR products, suggesting an approximately 2,000-bp deletion (b) (Lane 1: DNA ladder; Lane 2: negative control; Lane 3: patient; Lane 4: patient's mother; and Lane 5: wild-type control).