Fig. 2.

Genetic analyses. RT-PCR followed by gel electrophoresis of products spanning cDNA position c.1130 – c.1646 in the SLC17A5 gene showing two extra fragments of abnormal size in addition to the expected 517 bp fragment in the patient. The abnormal transcripts were absent in the control sample (a). RNA was extracted from cultured skin fibroblasts. Direct sequencing of the 620 bp fragment revealed an apparently homozygous insertion of 106 bp in length, where the first 24 bp corresponded to an intronic sequence immediately adjacent to the exon 9 splice site, followed by an 82 bp sequence corresponding to position 6033-5952 of the transposable element KF425758.1 (b)