Identification of mutations in the SLC4A11 gene in patients with recessive congenital hereditary endothelial dystrophy

Archives of Ophthalmology

Volumn 126, Issue 5, 2008, Pages 700-708

  Hemadevi, Boomiraj ^a   Veitia, Reiner A ^b   Srinivasan, Muthiah ^c   Arunkumar, Jambulingam ^c   Prajna, Namperumalsamy Venkatesh ^c   Lesaffre, Corinne ^b   Sundaresan, Periasamy ^a  

^a ARAVIND MEDICAL RESEARCH FOUNDATION   (India)

^b INSTITUT COCHIN   (France)

^c ARAVIND EYE HOSPITAL   (India)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEINS AND BINDING PROTEINS; PROTEIN SLC4A11;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CLINICAL ARTICLE; CONGENITAL CORNEA DYSTROPHY; CONTROLLED STUDY; DNA EXTRACTION; EXON; GENE AMPLIFICATION; GENE DELETION; GENE FUNCTION; GENE MUTATION; GENETIC IDENTIFICATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INDIAN; ONSET AGE; PATHOGENESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; ANION TRANSPORT PROTEINS; ANTIPORTERS; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; CORNEAL DYSTROPHIES, HEREDITARY; DNA MUTATIONAL ANALYSIS; ENDOTHELIUM, CORNEAL; EXONS; FEMALE; GENES, RECESSIVE; HUMANS; INDIA; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PROMOTER REGIONS (GENETICS);

EID: 43549117524     PISSN: 00039950     EISSN: 00039950     Source Type: Journal    
DOI: 10.1001/archopht.126.5.700     Document Type: Article

References (20)

1. Maumenee AE. Congenital hereditary corneal dystrophy. Am J Ophthalmol. 1960;50:1114-1124.
2. Ehlers N, Módis L, Møller-Pedersen T. A morphological and functional study of congenital hereditary endothelial dystrophy. Acta Ophthalmol Scand. 1998;76(3):314-318.
3. Judisch GF, Maumenee IH. Clinical differentiation of recessive congenital hereditary endothelial dystrophy and dominant hereditary endothelial dystrophy. Am J Ophthalmol. 1978;85(5, pt 1):606-612.
4. Harboyan G, Mamo J, der Kaloustian V, Karam F. Congenital corneal dystrophy: progressive sensorineural deafness in a family. Arch Ophthalmol. 1971;85(1):27-32.
5. Thompson RW Jr, Price MO, Bowers PJ, Price FW Jr. Long-term graft survival after penetrating keratoplasty. Ophthalmology. 2003;110(7):1396-1402.
6. Toma NM, Ebenezer ND, Inglehearn CF, Plant C, Ficker LA, Bhattacharya SS. Linkage of congenital hereditary endothelial dystrophy to chromosome 20. Hum Mol Genet. 1995;4(12):2395-2398.
7. Hand CK, Harmon DL, Kennedy SM, FitzSimon JS, Collum LMT, Parfrey NA. Localization of the gene for autosomal recessive congenital hereditary endothelial dystrophy (CHED2) to chromosome 20 by homozygosity mapping. Genomics. 1999;61(1):1-4.
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(7):755-757.
9. Alper SL, Darman RB, Chernova MN, Dahl NK. The AE gene family of Cl/HCO3-exchangers. J Nephrol. 2002;15(suppl 5):S41-S53.
10. Romero MF, Fulton CM, Boron WF. The SLC4 family of HCO3 - transporters. Pflugers Arch. 2004;447(5):495-509.
11. Parker MD, Ourmozdi EP, Tanner MJ. Human BTR1, a new bicarbonate transporter superfamily member and human AE4 from kidney. Biochem Biophys Res Commun. 2001;282(5):1103-1109.
12. Park M, Li Q, Shcheynikov N, Zeng W, Muallem S. NaBC1 is a ubiquitous electrogenic Na+-coupled borate transporter essential for cellular boron homeostasis and cell growth and proliferation. Mol Cell. 2004;16(3):331-341.
13. Ramprasad VL, Ebenezer ND, Aung T, et al. Novel SLC4A11 mutations in patients with recessive congenital hereditary endothelial dystrophy (CHED2). Hum Mutat. 2007;28(5):522-523.
14. 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(1):64-68.
15. 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.
16. Sultana A, Garg P, Ramamurthy B, Vemuganti GK, Kannabiran C. Mutational spectrum of the SLC4A11 gene in autosomal recessive congenital hereditary endothelial dystrophy. Mol Vis. 2007;13:1327-1332.
17. Aldave AJ, Yellore VS, Bourla N, et al. Autosomal recessive CHED associated with novel compound heterozygous mutations in SLC4A11. Cornea. 2007;26(7):896-900.
18. 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(5):322-326.
19. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988;16(3):1215.
20. Wilusz CJ, Wormington M, Peltz SW. The cap-to-tail guide to mRNA turnover. Nat Rev Mol Cell Biol. 2001;2(4):237-246.