Table 1.
Summary of Family Composition and Variant Screening Results in 138 Chinese adRP Families.
| # Family with M to M | % | # Family without M to M | % | #Total | % | |
|---|---|---|---|---|---|---|
| adRP gene variant | 40 | 64.5 | 33 | 43.4 | 73 | 52.9 |
| adCORD gene variant | 1 | 1.6 | 0 | 0.0 | 1 | 0.7 |
| xlRP gene variant | 0 | 0.0 | 6* | 7.9 | 6* | 4.3 |
| arRP gene variant | 2 | 3.2 | 1* | 1.3 | 3* | 2.2 |
| No variant identified | 19 | 30.7 | 37 | 48.7 | 56 | 40.6 |
| Total | 62 | 76 | 138 | 59.4 |
ad, autosomal dominant; ar, autosomal recessive; CORD, cone and rod dystrophy; M to M, male to male transmission; RP, retinitis pigmentosa; xl, x-linked;
*
one family carrying both variants of RPGR and FAM161A.