Mutations in LOXHD1, a recessive-deafness locus, cause dominant late-onset Fuchs corneal dystrophy

American Journal of Human Genetics

Volumn 90, Issue 3, 2012, Pages 533-539

  Riazuddin, S Amer ^a   Parker, David S ^b   McGlumphy, Elyse J ^a   Oh, Edwin C ^b   Iliff, Benjamin W ^a   Schmedt, Thore ^c   Jurkunas, Ula ^c   Schleif, Robert ^d   Katsanis, Nicholas ^b   Gottsch, John D ^a  

^a JOHNS HOPKINS UNIVERSITY   (United States)

^b DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c SCHEPENS EYE RESEARCH INSTITUTE   (United States)

^d JOHNS HOPKINS UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA;

ALLELE; ANIMAL TISSUE; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; COMPUTER MODEL; CONGENITAL CORNEA DYSTROPHY; CONTROLLED STUDY; CORNEA ENDOTHELIUM; DESCEMET MEMBRANE; ENDOTHELIUM; ENDOTHELIUM CELL; EXON; GENE LOCUS; GENE SEQUENCE; HAPLOTYPE; HEARING LOSS; HETEROZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MICROSATELLITE MARKER; MISSENSE MUTATION; MOUSE; MUTATIONAL ANALYSIS; NONHUMAN; NUCLEOTIDE SEQUENCE; ONSET AGE; PATHOGENESIS; PEDIGREE; PHENOTYPE; PREDICTION; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION; WILD TYPE;

ALLELES; ANIMALS; CARRIER PROTEINS; CASE-CONTROL STUDIES; CELLS, CULTURED; CHROMOSOMES; COHORT STUDIES; ENDOTHELIUM, CORNEAL; EXOME; EXONS; FUCHS' ENDOTHELIAL DYSTROPHY; GENETIC LINKAGE; GENETIC LOCI; GENETIC VARIATION; GENOME-WIDE ASSOCIATION STUDY; HAPLOTYPES; HETEROZYGOTE; HUMANS; INTRONS; MICE; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; RNA, MESSENGER;

EID: 84858080556     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2012.01.013     Document Type: Article

References (27)

1. E. Fuchs Dystrophia epithelialis corneae Graefes Arch. Clin. Exp. Ophthalmol. 76 1910 478 508
2. S.E. Wilson, and W.M. Bourne Fuchs' dystrophy Cornea 7 1988 2 18
3. G.K. Klintworth The molecular genetics of the corneal dystrophies - current status Front. Biosci. 8 2003 d687 d713
4. D.W. Lorenzetti, M.H. Uotila, N. Parikh, and H.E. Kaufman Central cornea guttata. Incidence in the general population Am. J. Ophthalmol. 64 1967 1155 1158
5. M.J. Mannis, E.J. Holland, R.W. Beck, M.W. Belin, M.A. Goldberg, R.L. Gal, A.D. Kalajian, K.R. Kenyon, C. Kollman, K.J. Ruedy Cornea Donor Study Group Clinical profile and early surgical complications in the Cornea Donor Study Cornea 25 2006 164 170
6. J.H. Krachmer, J.J. Purcell Jr., C.W. Young, and K.D. Bucher Corneal endothelial dystrophy. A study of 64 families Arch. Ophthalmol. 96 1978 2036 2039
7. J.D. Gottsch, O.H. Sundin, E.V. Rencs, D.G. Emmert, W.J. Stark, C.J. Cheng, and G.W. Schmidt Analysis and documentation of progression of Fuchs corneal dystrophy with retroillumination photography Cornea 25 2006 485 489
8. E.L. Goar Dystrophy of the Corneal Endothelium (Cornea Guttata), with Report of a Histologic Examination Trans. Am. Ophthalmol. Soc. 31 1933 48 59
9. S. Biswas, F.L. Munier, J. Yardley, N. Hart-Holden, R. Perveen, P. Cousin, J.E. Sutphin, B. Noble, M. Batterbury, and C. Kielty Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy Hum. Mol. Genet. 10 2001 2415 2423
10. J.D. Gottsch, O.H. Sundin, S.H. Liu, A.S. Jun, K.W. Broman, W.J. Stark, E.C. Vito, A.K. Narang, J.M. Thompson, and M. Magovern Inheritance of a novel COL8A2 mutation defines a distinct early-onset subtype of fuchs corneal dystrophy Invest. Ophthalmol. Vis. Sci. 46 2005 1934 1939
11. J.D. Gottsch, C. Zhang, O.H. Sundin, W.R. Bell, W.J. Stark, and W.R. Green Fuchs corneal dystrophy: Aberrant collagen distribution in an L450W mutant of the COL8A2 gene Invest. Ophthalmol. Vis. Sci. 46 2005 4504 4511
12. E.N. Vithana, P.E. Morgan, V. Ramprasad, D.T. Tan, V.H. Yong, D. Venkataraman, A. Venkatraman, G.H. Yam, S. Nagasamy, and R.W. Law SLC4A11 mutations in Fuchs endothelial corneal dystrophy Hum. Mol. Genet. 17 2008 656 666
13. S.A. Riazuddin, N.A. Zaghloul, A. Al-Saif, L. Davey, B.H. Diplas, D.N. Meadows, A.O. Eghrari, M.A. Minear, Y.J. Li, and G.K. Klintworth Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p Am. J. Hum. Genet. 86 2010 45 53
14. S.A. Riazuddin, E.N. Vithana, L.F. Seet, Y. Liu, A. Al-Saif, L.W. Koh, Y.M. Heng, T. Aung, D.N. Meadows, and A.O. Eghrari Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophy Hum. Mutat. 31 2010 1261 1268
15. O.H. Sundin, A.S. Jun, K.W. Broman, S.H. Liu, S.E. Sheehan, E.C. Vito, W.J. Stark, and J.D. Gottsch Linkage of late-onset Fuchs corneal dystrophy to a novel locus at 13pTel-13q12.13 Invest. Ophthalmol. Vis. Sci. 47 2006 140 145
16. O.H. Sundin, K.W. Broman, H.H. Chang, E.C. Vito, W.J. Stark, and J.D. Gottsch A common locus for late-onset Fuchs corneal dystrophy maps to 18q21.2-q21.32 Invest. Ophthalmol. Vis. Sci. 47 2006 3919 3926
17. S.A. Riazuddin, A.O. Eghrari, A. Al-Saif, L. Davey, D.N. Meadows, N. Katsanis, and J.D. Gottsch Linkage of a mild late-onset phenotype of Fuchs corneal dystrophy to a novel locus at 5q33.1-q35.2 Invest. Ophthalmol. Vis. Sci. 50 2009 5667 5671
18. K.H. Baratz, N. Tosakulwong, E. Ryu, W.L. Brown, K. Branham, W. Chen, K.D. Tran, K.E. Schmid-Kubista, J.R. Heckenlively, and A. Swaroop E2-2 protein and Fuchs's corneal dystrophy N. Engl. J. Med. 363 2010 1016 1024
19. S.A. Riazuddin, E.J. McGlumphy, W.S. Yeo, J. Wang, N. Katsanis, and J.D. Gottsch Replication of the TCF4 intronic variant in late-onset Fuchs corneal dystrophy and evidence of independence from the FCD2 locus Invest. Ophthalmol. Vis. Sci. 52 2011 2825 2829
20. Y.J. Li, M.A. Minear, J. Rimmler, B. Zhao, E. Balajonda, M.A. Hauser, R.R. Allingham, A.O. Eghrari, S.A. Riazuddin, and N. Katsanis Replication of TCF4 through association and linkage studies in late-onset Fuchs endothelial corneal dystrophy PLoS ONE 6 2011 e18044
21. N. Grillet, M. Schwander, M.S. Hildebrand, A. Sczaniecka, A. Kolatkar, J. Velasco, J.A. Webster, K. Kahrizi, H. Najmabadi, and W.J. Kimberling Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans Am. J. Hum. Genet. 85 2009 328 337
22. B. Rost Twilight zone of protein sequence alignments Protein Eng. 12 1999 85 94
23. H. Xiong, D. Wang, L. Chen, Y.S. Choo, H. Ma, C. Tang, K. Xia, W. Jiang, Z. Ronai, X. Zhuang, and Z. Zhang Parkin, PINK1, and DJ-1 form a ubiquitin E3 ligase complex promoting unfolded protein degradation J. Clin. Invest. 119 2009 650 660
24. R. Schröder, and B. Schoser Myofibrillar myopathies: A clinical and myopathological guide Brain Pathol. 19 2009 483 492
25. E.N. Vithana, P. Morgan, P. Sundaresan, N.D. Ebenezer, D.T. Tan, M.D. Mohamed, S. Anand, K.O. Khine, D. Venkataraman, and V.H. Yong Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2) Nat. Genet. 38 2006 755 757
26. S. Edvardson, C. Jalas, A. Shaag, S. Zenvirt, C. Landau, I. Lerer, and O. Elpeleg A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews Am. J. Med. Genet. A. 155A 2011 1170 1172
27. M. Stehouwer, W.R. Bijlsma, and A. Van der Lelij Hearing disability in patients with Fuchs' endothelial corneal dystrophy: Unrecognized co-pathology? Clin Ophthalmol 5 2011 1297 1301