Fig. 2

Genetic test results for the CTNS gene. a Direct sequencing results for genomic DNA analyses of the patient and mother. The patient possesses two heterozygous mutations of c.329G > C and c.329 + 2 T > C, and the mother only has c.329 + 2 T > C. This finding suggests that c.329G > C is on the paternal allele. b Electrophoresis results of transcript PCR products. The patient has a single band, which is smaller compared with the wild-type transcript control. The mother has two bands that are the same and smaller compared with the control. C: control. PT: patient. M: mother. c Direct sequencing results of transcripts. The patient showed only a skipped exon 6 sequence and the mother had both sequences with and without exon 6