Table 2.
Potential pathogenic variants identified in each family with LOD score ≥1.0
| FAM | Gene | Location | Ref | Alt | rsID | Amino acid | Allele frequency (ESP Europeans) | LOD score |
|---|---|---|---|---|---|---|---|---|
| II | CFH* | chr1:196643011 | A | G | D90G | 0 | 1.22 | |
| V | CFH* | chr1:196642206 | C | T | R53C | 0 | 5.07 | |
| VIII | CCDC75* | chr2:37315562 | C | A | S9Y | 0 | 1.50 | |
| IX | TARS2* | chr1:150477420 | C | A | P620H | 0 | 1.22 | |
| IX | WNT2 | chr7:116918397 | G | A | rs148046128 | R299W | 0.00093 | 1.22 |
Variants predicted to be both probably damaging by Polyphen-2 and deleterious by SIFT. FAM, family; Ref, reference allele; Alt, alternative allele; rsID, rs number; ESP, exome sequencing project. Asterisks indicate genes expressed in retina tissue (10).