Figure 4. Mutation screening of the retinoschisis 1 gene for the proband, his elder brother, and their parents in the Chinese family
with X-linked juvenile retinoschisis. A missense mutation of c.637C>T (R213W) in exon 6 of the retinoschisis 1 (RS1) gene was identified for the proband (III-14) and his brother (III-13). The mother (II-6) was heterozygous for the mutation,
and the father (II-7) was normal.