Mutation of Solute Carrier SLC16A12 Associates with a Syndrome Combining Juvenile Cataract with Microcornea and Renal Glucosuria

American Journal of Human Genetics

Volumn 82, Issue 3, 2008, Pages 772-779

  Kloeckener Gruissem, Barbara ^a,b   Vandekerckhove, Kristof ^c   Nürnberg, Gudrun ^d,f   Neidhardt, John ^a   Zeitz, Christina ^a   Nürnberg, Peter ^d,e   Schipper, Isaak ^c   Berger, Wolfgang ^a  

^a UNIVERSITY OF ZURICH   (Switzerland)

^b ETH ZURICH   (Switzerland)

^c LUZERNER KANTONSSPITAL   (Switzerland)

^d UNIVERSITY OF COLOGNE   (Germany)

^e UNIVERSITY OF COLOGNE   (Germany)

^f German Genome Resource Center RZPD   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

MEMBRANE PROTEIN; SLC16A1A PROTEIN; MONOCARBOXYLATE TRANSPORTER; SLC16A12 PROTEIN, HUMAN; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CATARACT; CHILD CARE; CHROMOSOME 10Q; CONTROLLED STUDY; CORNEA DISEASE; GENE EXPRESSION; GENE MAPPING; GENETIC LINKAGE; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HOMEOSTASIS; HUMAN; MICROCORNEA; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; RENAL DIABETES; CHROMOSOME 10; CHROMOSOME MAP; CONGENITAL MALFORMATION; CORNEA; FEMALE; GENETICS; HAPLOTYPE; MALE; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PEDIGREE; STOP CODON; SWEDEN; SYNDROME;

BASE SEQUENCE; CATARACT; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 10; CODON, NONSENSE; CORNEA; FEMALE; GLYCOSURIA, RENAL; HAPLOTYPES; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MONOCARBOXYLIC ACID TRANSPORTERS; PEDIGREE; SWEDEN; SYNDROME; TRANSCRIPTION, GENETIC; VARIATION (GENETICS);

EID: 41149175217     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2007.12.013     Document Type: Article

References (23)

1. Augusteyn R.C. Growth of the human eye lens. Mol. Vis. 13 (2007) 252-257
2. Francis P.J., Berry V., Bhattacharya S.S., and Moore A.T. The genetics of childhood cataract. J. Med. Genet. 37 (2000) 481-488
3. Jamieson R.V., Farrar N., Stewart K., Perveen R., Mihelec M., Carette M., Grigg J.R., McAvoy J.W., Lovicu F.J., Tam P.P., et al. Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocation. Hum. Mutat. 28 (2007) 968-977
4. Lorenz B. Genetic examination in cases of congenital cataract. Ophthalmologe 104 (2007) 559-565
5. Shiels A., and Hejtmancik J.F. Genetic origins of cataract. Arch. Ophthalmol. 125 (2007) 165-173
6. Shiels A., Bennett T.M., Knopf H.L., Yamada K., Yoshiura K., Niikawa N., Shim S., and Hanson P.I. CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q. Am. J. Hum. Genet. 81 (2007) 596-606
7. Vandekerckhove K., Lange A.P., Herzog D., and Schipper I. Juvenile cataract associated with microcornea and glucosuria: a new syndrome. Klin. Monatsbl. Augenheilkd. 224 (2007) 344-346
8. Santer R., Kinner M., Lassen C.L., Schneppenheim R., Eggert P., Bald M., Brodehl J., Daschner M., Ehrich J.H., Kemper M., et al. Molecular analysis of the SGLT2 gene in patients with renal glucosuria. J. Am. Soc. Nephrol. 14 (2003) 2873-2882
9. Gudbjartsson D.F., Jonasson K., Frigge M.L., and Kong A. Allegro, a new computer program for multipoint linkage analysis. Nat. Genet. 25 (2000) 12-13
10. Thiele H., and Nurnberg P. HaploPainter: a tool for drawing pedigrees with complex haplotypes. Bioinformatics 21 (2005) 1730-1732
11. Burdon K.P., McKay J.D., Wirth M.G., Russell-Eggit I.M., Bhatti S., Ruddle J.B., Dimasi D., Mackey D.A., and Craig J.E. The PITX3 gene in posterior polar congenital cataract in Australia. Mol. Vis. 12 (2006) 367-371
12. Semina E.V., Ferrell R.E., Mintz-Hittner H.A., Bitoun P., Alward W.L., Reiter R.S., Funkhauser C., Daack-Hirsch S., and Murray J.C. A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD. Nat. Genet. 19 (1998) 167-170
13. Futter C.E., Crowston J.G., and Allan B.D. Interaction with collagen IV protects lens epithelial cells from Fas-dependent apoptosis by stimulating the production of soluble survival factors. Invest. Ophthalmol. Vis. Sci. 46 (2005) 3256-3262
14. Halestrap A.P., and Meredith D. The SLC16 gene family-from monocarboxylate transporters (MCTs) to aromatic amino acid transporters and beyond. Pflugers Arch. 447 (2004) 619-628
15. Neidhardt J., Glaus E., Barthelmes D., Zeitz C., Fleischhauer J., and Berger W. Identification and characterization of a novel RPGR isoform in human retina. Hum. Mutat. 28 (2007) 797-807
16. Halestrap A.P., and Price N.T. The proton-linked monocarboxylate transporter (MCT) family: structure, function and regulation. Biochem. J. 343 (1999) 281-299
17. Deora A.A., Philp N., Hu J., Bok D., and Rodriguez-Boulan E. Mechanisms regulating tissue-specific polarity of monocarboxylate transporters and their chaperone CD147 in kidney and retinal epithelia. Proc. Natl. Acad. Sci. USA 102 (2005) 16245-16250
18. Philp N.J., Wang D., Yoon H., and Hjelmeland L.M. Polarized expression of monocarboxylate transporters in human retinal pigment epithelium and ARPE-19 cells. Invest. Ophthalmol. Vis. Sci. 44 (2003) 1716-1721
19. Rost B., Yachdav G., and Liu J. The PredictProtein server. Nucleic Acids Res. 32 (2004) W321-W326
20. Holbrook J.A., Neu-Yilik G., Hentze M.W., and Kulozik A.E. Nonsense-mediated decay approaches the clinic. Nat. Genet. 36 (2004) 801-808
21. Wallner E.I., Wada J., Tramonti G., Lin S., and Kanwar Y.S. Status of glucose transporters in the mammalian kidney and renal development. Ren. Fail. 23 (2001) 301-310
22. Hammond C.J., Snieder H., Spector T.D., and Gilbert C.E. Genetic and environmental factors in age-related nuclear cataracts in monozygotic and dizygotic twins. N. Engl. J. Med. 342 (2000) 1786-1790
23. Hammond C.J., Duncan D.D., Snieder H., de Lange M., West S.K., Spector T.D., and Gilbert C.E. The heritability of age-related cortical cataract: the twin eye study. Invest. Ophthalmol. Vis. Sci. 42 (2001) 601-605