Table 1 Reported mutations in the FYCO1 gene
Pathogenic variant | Protein effect | Type of mutation | Phenotype |
|---|---|---|---|
c.1045 C > T | p.Gln349Ter | Nonsense | Congenital cataracts |
c.1546 C > T | p.Gln516Ter | Nonsense | Congenital cataracts |
c.2206 C > T | p.Gln736Ter | Nonsense | Congenital cataracts |
c.2761 C > T | p.Arg921Ter | Nonsense | Congenital cataracts |
c.2830 C > T | p.Arg944Ter | Nonsense | Congenital cataracts |
c.3670 C > T | p.Arg1224Ter | Nonsense | Congenital cataracts |
c.449T > C | p.Ile150Thr | Missense | Cataract, recessive pediatric |
c.4127T > C | p.Leu1376Pro | Missense | Congenital cataracts |
IVS9 ds + 1 G > T | – | Splicing | Congenital cataracts |
IVS9 as − 2 A > C | – | Splicing | Cataract, autosomal recessive |
IVS14 as − 1 G > C | – | Splicing | Congenital cataracts |