Figure 1.

Sanger sequencing results of two new mutations in exon 8 of the CTNS gene. (a) In patient 1, a novel missense homozygous mutation was identified as c.517T>C; p.Y173H. (b) In patient 16, as well as patient 19 (not shown), a novel in-frame 24-bp deletion was identified as c.492_515del. The direct repeat sequences at the deletion breakpoints are shown. (c) Y173 and five of the eight removed amino acids (aa 165_172) in mutation c.492_515del were highly conserved among 10 different species.