Mutations in the FYCO1 gene have been identified in families with autosomal recessive cataract described as congenital and congenital nuclear. [From OMIM]
Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations of eye, ear, face and neck
Autosomal recessive
3p21.31
Mutations in the FYCO1 gene have been identified in families with autosomal recessive cataract described as congenital and congenital nuclear. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 610019.1.1 | Saudi Arabia | Male | Yes | Yes | Developmental cataract Developmental cataract  | NM_024513.4:c.2505del | Homozygous | Autosomal, Recessive | Khan et al. 2012; Aldahmesh et al. 2012; Patel et al. 2017 | Proband |
| 610019.1.2 | Saudi Arabia | Female | Yes | Yes | Developmental cataract; Posterior capsul... Developmental cataract; Posterior capsular cataract | NM_024513.4:c.2505del | Homozygous | Autosomal, Recessive | Khan et al. 2012; Aldahmesh et al. 2012; Patel et al. 2017 | Sister of 610019.1.1 |
| 610019.2.1 | Saudi Arabia | Female | No | Yes | Developmental cataract; Posterior capsul... Developmental cataract; Posterior capsular cataract | NM_024513.3:c.449T>C | Homozygous | Autosomal, Recessive | Khan et al. 2012 | |
| 610019.3.1 | Saudi Arabia | Unknown | Yes | Developmental cataract Developmental cataract | NM_024513.4:c.2714_2715del, NM_024513.4:c.2345del | Compound heterozygous | Autosomal, Recessive | Patel et al. 2017 | ||
| 610019.3.2 | Saudi Arabia | Unknown | Yes | Developmental cataract Developmental cataract | NM_024513.4:c.2714_2715del, NM_024513.4:c.2345del | Compound heterozygous | Autosomal, Recessive | Patel et al. 2017 | Relative of 610019.3... |