Mutations in the CRYBA1 gene have been found to cause multiple types of cataract, which have been described as congenital zonular with sutural opacities, congenital nuclear progressive, and progressive lamellar. [From OMIM]
Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations of eye, ear, face and neck
Autosomal dominant
17q11.2
Mutations in the CRYBA1 gene have been found to cause multiple types of cataract, which have been described as congenital zonular with sutural opacities, congenital nuclear progressive, and progressive lamellar. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 600881.1.1 | Saudi Arabia | Male | Yes | Yes | Developmental cataract Developmental cataract  | NM_005208.5:c.588_591del | Homozygous | Autosomal, Recessive | Khan et al. 2015; Patel et al. 2017 | Patient had lens asp... |
| 600881.1.2 | Saudi Arabia | Male | Yes | Yes | Developmental cataract Developmental cataract | NM_005208.5:c.588_591del | Homozygous | Autosomal, Recessive | Khan et al. 2015; Patel et al. 2017 | Brother of 600881.1.... |