Table 1 Summary of the previously reported CRYBA1 △G91 mutation in autosomal dominant congenital cataracts
Phenotype | Race | Genotyping method | Functional study | Reported year | Ref. | |
|---|---|---|---|---|---|---|
1 | Nuclear cataract | Swiss | STR of cataract genes and regions | 2004 | [3] | |
2 | Nuclear cataract | Chinese | STR of 12 candidate gene | 2004 | [4] | |
3 | Lamellar cataract | English | Genome wide STR | CRYBA1 mutant protein solubility analysis; circular dichroism spectroscopy | 2004 | [5] |
4 | Pulverulent cataract | Chinese | Genome wide SNP | 2007 | [6] | |
5 | Nuclear catarct | Chinese | STR of 26 candidate genes | 2011 | [7] | |
6 | Nuclear cataract | Chinese | 12 candidate gene sequencing | 2011 | [8] | |
7 | Nuclear cataract | Iranian | 4 candidate gene sequencing | 2016 | [9] | |
8 | Nuclear cataract | Chinese | One gene sequencing | 2018 | [10] | |
9 | Nuclear cataract/ esotropia/ nystagmus | Chinese | Whole exome sequencing | CRYBA1 mutant protein expression and distribution | 2019 | a |