Mutational spectrum of SLC4A11 in autosomal recessive ched in Saudi Arabia

Investigative Ophthalmology and Visual Science

Volumn 50, Issue 9, 2009, Pages 4142-4145

  Aldahmesh, Mohammed A ^a   Khan, Arif O ^a,b   Meyer, Brian F ^a   Alkuraya, Fowzan S ^a,c,d  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b KING KHALED EYE SPECIALIST HOSPITAL   (Saudi Arabia)

^c KING KHALID UNIVERSITY HOSPITAL   (Saudi Arabia)

^d ALFAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

BICARBONATE TRANSPORTER RELATED PROTEIN 1; CARRIER PROTEINS AND BINDING PROTEINS; SOLUTE CARRIER FAMILY 4 SODIUM BICARBONATE TRANSPORTER LIKE MEMBER 11; UNCLASSIFIED DRUG; ANION TRANSPORT PROTEIN; ANTIPORTER; MICROSATELLITE DNA; SLC4A11 PROTEIN, HUMAN;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHILD; CONGENITAL CORNEA DYSTROPHY; CONGENITAL HEREDITARY ENDOTHELIAL DYSTROPHY; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; GENE DELETION; GENE LOCUS; GENE MUTATION; GENETIC HETEROGENEITY; GENOTYPE; HOMOZYGOSITY; HUMAN; INTRON; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PRIORITY JOURNAL; SAUDI ARABIA; SEQUENCE ANALYSIS; SPLICING DEFECT; AMINO ACID SEQUENCE; CONSANGUINITY; CORNEA ENDOTHELIUM; DNA SEQUENCE; ETHNOLOGY; FEMALE; GENETICS; MALE; MOLECULAR GENETICS; MUTATION; PATHOLOGY; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; RECESSIVE GENE;

AMINO ACID SEQUENCE; ANION TRANSPORT PROTEINS; ANTIPORTERS; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; CORNEAL DYSTROPHIES, HEREDITARY; ENDOTHELIUM, CORNEAL; FEMALE; GENES, RECESSIVE; GENOTYPE; HUMANS; MALE; MICROSATELLITE REPEATS; MOLECULAR SEQUENCE DATA; MUTATION; POLYMERASE CHAIN REACTION; SAUDI ARABIA; SEQUENCE ANALYSIS, DNA;

EID: 70349243265     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.08-3006     Document Type: Article

References (19)

1. Bonanno JA. Identity and regulation of ion transport mechanisms in the corneal endothelium. Prog Retin Eye Res. 2003;22:69-94.
2. Vithana EN, Morgan P, Sundaresan P, et al. Mutations in sodiumborate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2). Nat Genet. 2006;38:755-757.
3. Maumenee AE. Congenital hereditary corneal dystrophy. Am J Ophthalmol. 1960;50:1114-1124.
4. Kirkness CM, McCartney A, Rice NS, Garner A, Steele AD. Congenital hereditary corneal oedema of Maumenee: its clinical features, management, and pathology. Br J Ophthalmol. 1987;71:130-144.
5. 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;4:2395-2398.
6. Mohamed MD, McKibbin M, Jafri H, Rasheed Y, Woods CG, Inglehearn CF. A new pedigree with recessive mapping to CHED2 locus on 20p13. Br J Ophthalmol. 2001;85:758-759.
7. 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;44:322-326.
8. Vithana EN, Morgan PE, Ramprasad V, et al. SLC4A11 mutations in Fuchs endothelial corneal dystrophy. Hum Mol Genet. 2008;17: 656-666.
9. 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;16:331-341.
10. Aldave AJ, Yellore VS, Bourla N, et al. Autosomal recessive CHED associated with novel compound heterozygous mutations in SLC4A11. Cornea. 2007;26:896-900.
11. 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.
12. 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;126:700-708.
13. 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;28:522-523.
14. 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.
15. Jiao X, Sultana A, Garg P, et al. Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11. J Med Genet. 2007;44:64-68.
16. McCullough AJ, Berget SM. An intronic splicing enhancer binds U1 snRNPs to enhance splicing and select 5 splice sites. Mol Cell Biol. 2000;20:9225-9235.
17. 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; 29:41-45.
18. Wilusz CJ, Wormington M, Peltz SW. The cap-to-tail guide to mRNA turnover. Nat Rev. 2001;2:237-246.
19. McCarthy EM, Phillips JA 3rd. Characterization of an intron splice enhancer that regulates alternative splicing of human GH premRNA. Hum Mol Genet. 1998;7:1491-1496.