While the LONP1 gene has been associated with CODAS syndrome, there have also been reports of LONP1 mutations in cases of non-syndromic cataract. Affected patients may have congenital or pediatric cataract.
Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations of eye, ear, face and neck
Autosomal recessive
19p13.3
While the LONP1 gene has been associated with CODAS syndrome, there have also been reports of LONP1 mutations in cases of non-syndromic cataract. Affected patients may have congenital or pediatric cataract.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 605490.1.1 | Saudi Arabia | Female | Yes | Yes | Developmental cataract; Nuclear cataract Developmental cataract; Nuclear cataract  | NM_004793.4:c.2014C>T | Homozygous | Autosomal, Recessive | Khan et al. 2015; Patel et al. 2017 | |
| 605490.1.2 | Saudi Arabia | Female | Yes | Yes | Developmental cataract; Nuclear cataract Developmental cataract; Nuclear cataract | NM_004793.4:c.2014C>T | Homozygous | Autosomal, Recessive | Khan et al. 2015; Patel et al. 2017 | Sister of 605490.1.1 |
| 605490.1.3 | Saudi Arabia | Male | Yes | Yes | Developmental cataract; Nuclear cataract Developmental cataract; Nuclear cataract | NM_004793.4:c.2014C>T | Homozygous | Autosomal, Recessive | Khan et al. 2015; Patel et al. 2017 | Brother of 605490.1.... |
| 605490.2 | Saudi Arabia | Unknown | Nuclear cataract; Juvenile onset Nuclear cataract; Juvenile onset | NM_004793.4:c.1612C>T | Homozygous | Autosomal, Recessive | Patel et al. 2017 | |||
| 605490.3.1 | Saudi Arabia | Unknown | Yes | Juvenile cataract Juvenile cataract | NM_004793.4:c.2014C>T | Homozygous | Autosomal, Recessive | Patel et al. 2017 | ||
| 605490.3.2 | Saudi Arabia | Unknown | Yes | Juvenile cataract Juvenile cataract | NM_004793.4:c.2014C>T | Homozygous | Autosomal, Recessive | Patel et al. 2017 | Relative of 605490.3... | |
| 605490.4 | Saudi Arabia | Unknown | No | Developmental cataract Developmental cataract | NM_004793.4:c.2014C>T | Homozygous | Autosomal, Recessive | Patel et al. 2017 |