Table 3 of Xu, Mol Vis 2010; 16:1593-1600.

Table 3. Screening of R213W mutation in family members with or without X-linked juvenile retinoschisis

ID Sex Age Phenotype c.637C>T
I-3 F 70 Carrier C/T
I-4 M 73 Unaffected C
I-5 F 64 Carrier C/T
II-2 F 46 Unaffected C/C
II-4 F 42 Unaffected C/C
II-5 M 45 Unaffected C
II-6 F 40 Carrier C/T
II-7 M 42 Unaffected C
II-10 M 36 Affected T
II-11 F 34 Unaffected C/C
II-12 M 31 Unaffected C
II-13 F 28 Unaffected C/C
II-17 M 35 Affected T
II-19 F 37 Carrier C/T
II-20 M 40 Unaffected C
II-21 F 35 Unaffected C/C
III-1 M 31 Unaffected C
III-4 F 26 Unaffected C/C
III-6 F 22 Unaffected C/C
III-10 M 23 Unaffected C
III-11 F 21 Unaffected C/C
III-12 F 15 Unaffected C/C
III-13 M 7 Affected T
III-14 M 5 Affected T
III-20 M 18 Affected T
III-22 M 16 Affected T
III-23 M 11 Affected T
IV-1 M 4 Unaffected C

This table summarizes the screening results of c.637C>T (R213W) mutation in the 28 family members with or without X-linked juvenile retinoschisis. Abbreviations: M represents male; F represents female.

Xu, Mol Vis 2010; 16:1593-1600. http://www.molvis.org/molvis/v16/a171

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