Figure 1. Identification of mutations in pre-mRNA splicing related genes in the three corresponding families, conservation of SNRNP200 p.R681H and three-dimensional crystal of protein of SNRNP200. A: PRPF31 c.1098delG (p.Leu366fs*1) mutation in family 01. B: SNRNP200 c.2042G>A (p.R681H) mutation in family 02. C: SNRNP200 c.3260G>A (p.S1087L) mutation in family 03. D: SNRNP200 p.R681H and p.S1087 in the three-dimensional crystal of the protein of SNRNP200, which the SNRNP200 p.R681H was evolutionarily conserved (bottom). Men and women are symbolized by squares and circles, and slashed symbols denote that the subject is deceased. Affected and unaffected members are represented by filled and open symbols, respectively, while a question mark stands for an unclear physical condition. Arrows point to the probands, and asterisks indicate the subjects who participated in our study.