Table 1.
Genes involved in congenital and paediatric cataracts. References are given in the body of the text; databases used are: OMIM (http://www.ncbi.nlm.nih.gov/omim) for human mutations; MGI (http://www.informatics.jax.org/) for mouse mutations. ASOD, anterior segment ocular dysgenesis (also referred to as ASMD, anterior segment mesenchymal dysgenesis); n.d., no ocular phenotype detected (genes are listed only if at least in humans or in mice cataracts have been reported); rec, recessive; dom, dominant; cat, cataract; chr, chromosome.
| genea | human |
mouse |
||||
|---|---|---|---|---|---|---|
| chr | dom/rec | phenotypeb | chr | dom/rec | phenotypeb | |
| enzymes | ||||||
| GALE | 1p36 | rec | (risk for) cataract | 4 | no mutation | |
| GALK1 | 17q24 | rec | cataract | 11 | n.d. | |
| NSDHL | Xq28 | n.d. | X | dom | cataract | |
| PCBD1 | 10q22 | n.d. | 10 | rec | cataract | |
| SORD | 15q15 | rec | cataract | 2 | rec | cataract |
| structural proteins (soluble in cytosol) | ||||||
| CRYAA | 21q22 | dom/rec | cataract | 17 | dom/rec | cataract |
| CRYAB | 11q22 | dom/rec | cataract | 9 | n.d. | |
| CRYBA1 | 17q11 | dom | cataract | 11 | dom | cataract |
| CRYBA3 | 22q11 | dom | cataract | 5 | n.d. | |
| CRYBB1 | 22q11 | dom | cataract | 5 | n.d. | |
| CRYBB2 | 22q11 | dom | cataract | 5 | dom | cataract |
| CRYBB3 | 22q11 | rec | cataract | 5 | n.d. | |
| CRYGA | 2q33 | n.d. | 1 | dom | cataract | |
| CRYGB | 2q33 | n.d. | 1 | dom | cataract | |
| CRYGC | 2q33 | dom | cataract | 1 | dom | cataract |
| CRYGD | 2q33 | dom | cataract | 1 | dom | cataract |
| CRYGE | 2q33 | pseudogene | 1 | dom | cataract | |
| CRYGF | 2q33 | pseudsogene | 1 | dom | cataract | |
| CRYGS | 3q27 | dom | cataract | 16 | dom/rec | cataract |
| structural proteins (membrane or cytoskeleton) | ||||||
| BFSP1 | 20p12 | rec | cataract | 2 | semi-dom | cataract |
| BFSP2 | 3q21 | dom | cataract | 9 | slight opacity | |
| COL4A1 | 13q34 | n.d. | 8 | dom | ASOD, cataract | |
| GJA1 | 6q21 | dom/rec | oculodentodigital Dysplasia | 10 | dom | abnormal iris, cornea opacity |
| GJA3 | 13q11 | dom | cataract | 14 | rec | cataract |
| GJA8 | 1q21 | dom | cataract | 3 | dom | cataract |
| GJF1 | n.d. | 10 | dom | (Aey12); cataract | ||
| LIM2 | 19q13 | rec | presenile cataract | 7 | dom | (To3); cataract |
| MIP | 12q13 | dom | cataract | 10 | dom | cataract |
| NHS | Xp22 | dom | Nance–Horan syndrome (cataract) | X | semi-dom | cataract |
| NRCAM | 7q31 | n.d. | 12 | rec | cataract | |
| SPARC | 5q31 | n.d. | 11 | rec | cataract–age onset? | |
| VIM | 10p13 | dom | cataract | 2 | n.d. | |
| transcription factors | ||||||
| FOXE3 | 1p32 | dom; rec | ASOD, cataract; aphakia | 4 | rec | cataract (dyl) |
| HSF4 | 16q21 | dom | lamellar cataract | 8 | rec | cataract (lop11) |
| v-MAF | 16q22 | dom | pulverulent cataract | 8 | dom | cataract (Ofl) |
| PAX6 | 11p13 | dom | aniridia, Peters' anomaly, cataract | 2 | dom | small eye, cataract |
| PITX3 | 10q25 | dom | posterior polar cataract | 19 | rec | no lens (ak, eyl) |
| SIX5 | 19q13 | ?? | (adult) iridescent cataract | 7 | dom | cataract |
| SOX1 | 13q34 | n.d. | 8 | ?? | microphthalmia, cataract | |
| SOX2 | 3q26 | dom | anophthalmia, microphthalmia | 3 | dom? | anophthalmia |
| signalling molecules | ||||||
| EPHA2 | 1p36 | dom | cataract | 4 | rec | (age-related) cataract |
| EFNA5 | 5q21 | n.d. | 17 | rec | cataract | |
aGene symbols are given for humans; the corresponding mouse symbol has mostly the same letters, but only the first letter is capitalized.
bOnly ocular features are given. In many cases, the mutations in the affected genes have additional, pleiotropic effects.