Novel GLA Deletion in a Cypriot Female Presenting with Cornea Verticillata

Figure 2

(a) Results of the long-range PCR assay in the proband with exon 7 deletion (lane 2) and healthy control (lane 1). Arrow indicates the aberrant (shorter) product. Lane 4, 10 kb ladder. (b) Breakpoint analysis and schematic figure of GLA gene exon 7 deletion. Sequence analysis showed a 1182 bp deletion with its 5′ end located within exon 6 and its 3′ end located 612 bp downstream of exon 7.

(a)

(b)