Table 2.
Published series of SLC4A11 screening in congenital hereditary endothelial dystrophy
| Publication | Year of Publication | Location | # of probands screened | # of probands with mutation | # of probands without a mutation | Promoter screened? |
|---|---|---|---|---|---|---|
| Jiao et al1 | 2006 | Hyderabad, India | 16 | 12 | 4 | No |
| Vithana et al2 | 2006 | Madurai, India | 10 | 10 | 0 | |
| Sultana et al3 | 2007 | Hyderabad, India | 42 | 35 | 7 | No |
| Kumar et al4 | 2007 | Bangalore, India | 2 | 2 | 0 | |
| Ramprasad et al5 | 2007 | Chennai, India | 9 | 9 | 0 | |
| Aldave et al6 | 2007 | Los Angeles, US | 1 | 1 | 0 | |
| Desir et al7 | 2007 | Brussels, Belgium | 7 | 7 | 0 | |
| Hemadevi et al8 | 2008 | Madurai, India | 20 | 11 | 9 | Yes |
| Shah et al9 | 2008 | Riyadh, Saudi Arabia | 2 | 1 | 1 | No |
| Aldahmesh et al10 | 2009 | Riyadh, Saudi Arabia | 7 | 7 | 0 | |
| Paliwal et al11 | 2010 | New Delhi, India | 20 | 9 | 11 | Yes |
| Total | 136 | 104 | 32 |
Jiao X, Sultana A, Garg P, et al. Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11. J Med Genet 2007;44:64–8.
Vithana EN, Morgan P, Sundaresan P, et al. Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2). Nat Genet 2006;38:755–7.
Sultana A, Garg P, Ramamurthy B, et al. Mutational spectrum of the SLC4A11 gene in autosomal recessive congenital hereditary endothelial dystrophy. Mol Vis 2007;13:1327–32.
Kumar A, Bhattacharjee S, Prakash DR, Sadanand CS. Genetic analysis of two Indian families affected with congenital hereditary endothelial dystrophy: two novel mutations in SLC4A11. Mol Vis 2007;13:39–46.
Ramprasad VL, Ebenezer ND, Aung T, et al. Novel SLC4A11 mutations in patients with recessive congenital hereditary endothelial dystrophy (CHED2). Mutation in brief #958. Online. Hum Mutat 2007;28:522–3.
Aldave AJ, Yellore VS, Bourla N, et al. Autosomal recessive CHED associated with novel compound heterozygous mutations in SLC4A11. Cornea 2007;26:896–900.
Desir J, Moya G, Reish O, et al. Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy. J Med Genet 2007;44:322–6.
Hemadevi B, Veitia RA, Srinivasan M, et al. Identification of mutations in the SLC4A11 gene in patients with recessive congenital hereditary endothelial dystrophy. Arch Ophthalmol 2008;126:700–8.
Shah SS, Al-Rajhi A, Brandt JD, et al. Mutation in the SLC4A11 gene associated with autosomal recessive congenital hereditary endothelial dystrophy in a large Saudi family. Ophthalmic Genet 2008;29:41–5.
Aldahmesh MA, Khan AO, Meyer BF, Alkuraya FS. Mutational spectrum of SLC4A11 in autosomal recessive CHED in Saudi Arabia. Invest Ophthalmol Vis Sci 2009;50:4142–5.
Paliwal P, Sharma A, Tandon R, et al. Congenital hereditary endothelial dystrophy - mutation analysis of SLC4A11 and genotype-phenotype correlation in a North Indian patient cohort. Mol Vis 2010;16:2955–63.