Molecular Vision: Lesch, Mol Vis 2008; 14:2321-2332. Table 3

Table 3. Identified RS1 mutations and their prevalence in Hungarian XLRS families

Mutation	Type of mutation	Effect of mutation	Localization	Number of carriers	Number of patients	Number of families	Prevalence (percent)
c.78+1G>C	splice site	frameshift→ truncated protein	intron 2	2	2	1	7.14
c.214G>A	missense	p.Glu72Lys	exon 4	5	5	2	17.86
c.418G>A	missense	p.Gly140Arg	exon 5	4	3	2	12.5%
c.421C>T	missense	p.Arg141Cys	exon 5	6	6+1	3	21.42+1.79
c.422G>A	missense	p.Arg141His	exon 5	5	4	1	16.07
c.574C>T	missense	p.Pro192Ser	exon 6	3	2	2	8.93
c.575C>T *	missense	p.Pro192Leu	exon 6	-	1	1	1.79
c.579dupC	insertion	frame shift→ longer protein	exon 6	3	1	1	7.14
c.625C>T	missense	p.Arg209Cys	exon 6	3	1	1	7.14
Total: 9				31	26–1=25	13	99.99+1.79

Summarized are the DNA outcome of RS1 mutations in Hungarian X-linked juvenile retinoschisis pedigrees. The following abbreviations were used: Glu is Glutamate (Glu), Arg is arginine (Arg), Gly is glycine (Gly), Cys is cysteine (Cys), His is histidine (His), Pro is proline (Pro), Ser is serine (Ser), Leu is leucine (Leu). Prevalence based on the number of persons (n=56) affected by XLRS. The illusory +1.79 value of prevalence is due to patient II:2 in family 4, who had two different mutations (c.421C>T, c.574C>T) in the RS1 gene, which resulted in apparent prevalence greater than 100%. That is why the illusory +1 values of number of patients and the −1 value of total number of patients. The asterisk indicates a new mutation.