Late-onset lattice corneal dystrophy without typical lattice lines caused by a novel mutation in the TGFBI gene

Cornea

Volumn 33, Issue 3, 2014, Pages 294-299

  Ołdak, Monika ^a   Szaflik, Jacek P ^b   Ściezyńska, Aneta ^a   Udziela, Monika ^b   Maksym, Radosław B ^a   Rymgayłło Jankowska, Beata ^c   Hofmann Rummelt, Carmen ^d   Menzel Severing, Johannes ^d   Płoski, Rafał ^b   Zarnowski, Tomasz ^c   Kruse, Friedrich E ^d   Szaflik, Jerzy ^b  

^a MEDICAL UNIVERSITY OF WARSAW   (Poland)

^b MEDICAL UNIVERSITY OF WARSAW   (Poland)

^c MEDICAL UNIVERSITY OF LUBLIN   (Poland)

^d UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

Author keywords

Amyloid staining; Confocal in vivo microscopy; Cornea; Lattice corneal dystrophy; TGFBI mutation

Indexed keywords

AGED; CORNEAL DYSTROPHIES, HEREDITARY; CORNEAL TRANSPLANTATION; DNA MUTATIONAL ANALYSIS; EXONS; EXTRACELLULAR MATRIX PROTEINS; FEMALE; GENE AMPLIFICATION; HUMANS; MALE; MICROSCOPY, CONFOCAL; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; TRANSFORMING GROWTH FACTOR BETA;

EID: 84894046987     PISSN: 02773740     EISSN: 15364798     Source Type: Journal    
DOI: 10.1097/ICO.0000000000000062     Document Type: Article

References (28)

1. Klintworth GK. Corneal dystrophies. Orphanet J Rare Dis. 2009;4:7.
2. Weiss JS, Moller HU, Lisch W, et al. The IC3D classification of the corneal dystrophies. Cornea. 2008;27(SUPPL2):S1-S83.
3. Munier FL, Korvatska E, Djemaï A, et al. Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. Nat Genet. 1997;15:247-251.
4. Escribano J, Hernando N, Ghosh S, et al. cDNA from human ocular ciliary epithelium homologous to beta ig-h3 is preferentially expressed as an extracellular protein in the corneal epithelium. J Cell Physiol. 1994; 160:511-521.
5. Konishi M, Yamada M, Nakamura Y, et al. Immunohistology of keratoepithelin in corneal stromal dystrophies associated with R124 mutations of the BIGH3 gene. Curr Eye Res. 2000;21:891-896.
6. Stix B, Leber M, Bingemer P, et al. Hereditary lattice corneal dystrophy is associated with corneal amyloid deposits enclosing C-Terminal fragments of keratoepithelin. Invest Ophthalmol Vis Sci. 2005;46:1133-1139.
7. Kannabiran C, Klintworth GK. TGFBI gene mutations in corneal dystrophies. Hum Mutat. 2006;27:615-625.
8. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988;16: 1215.
9. Szaflik JP, O1dak M, Maksym RB, et al. Genetics of Meesmann corneal dystrophy: A novel mutation in the keratin 3 gene in an asymptomatic family suggests genotype-phenotype correlation. Mol Vis. 2008;14: 1713-1718.
10. Ke X, Collins A, Ye S. PIRA PCR designer for restriction analysis of single nucleotide polymorphisms. Bioinformatics. 2001;17:838-839.
11. Thompson JD, Higgins DG, Gibson TJ. CLUSTAL W: Improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice. Nucleic Acids Res. 1994;22:4673-4680.
12. Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nat Methods. 2010;7:248-249.
13. Kumar P, Henikoff S, Ng PC. Predicting the effects of coding nonsynonymous variants on protein function using the SIFT algorithm. Nat Protoc. 2009;4:1073-1081.
14. Thomas PD, Campbell MJ, Kejariwal A, et al. PANTHER: A library of protein families and subfamilies indexed by function. Genome Res. 2003; 13:2129-2141.
15. Bromberg Y, Rost B. SNAP: Predict effect of non-synonymous polymorphisms on function. Nucleic Acids Res. 2007;35:3823-3835.
16. Yue P, Moult J. Identification and analysis of deleterious human SNPs. J Mol Biol. 2006;356:1263-1274.
17. Calabrese R, Capriotti E, Fariselli P, et al. Functional annotations improve the predictive score of human disease-related mutations in proteins. Hum Mutat. 2009;30:1237-1244.
18. Capriotti E, Calabrese R, Casadio R. Predicting the insurgence of human genetic diseases associated to single point protein mutations with support vector machines and evolutionary information. Bioinformatics. 2006;22: 2729-2734.
19. Kamal KM, Rayner SA, Chen MC, et al. Classic lattice corneal dystrophy associated with monoclonal gammopathy after exclusion of a TGFBI mutation. Cornea. 2009;28:97-98.
20. Spiegel P, Grossniklaus HE, Reinhart WJ, et al. Unusual presentation of paraproteinemic corneal infiltrates. Cornea. 1990;9:81-85.
21. Tsunoda I, Awano H, Kayama H, et al. Idiopathic AA amyloidosis manifested by autonomic neuropathy, vestibulocochleopathy, and lattice corneal dystrophy. J Neurol Neurosurg Psychiatry. 1994;57:635-637.
22. Livshits L, Pampukha VM, Tereshchenko FA, et al. Gene symbol: TGFBI. Disease: Corneal dystrophy, lattice type. Hum Genet. 2008; 124:296-297.
23. Paliwal P, Sharma A, Tandon R, et al. TGFBI mutation screening and genotype-phenotype correlation in north Indian patients with corneal dystrophies. Mol Vis. 2010;16:1429-1438.
24. Warren JF, Abbott RL, Yoon MK, et al. A new mutation (Leu569Arg) within exon 13 of the TGFBI (BIGH3) gene causes lattice corneal dystrophy type I. Am J Ophthalmol. 2003;136:872-878.
25. Pampukha VM, Kravchenko SA, Tereshchenko FA, et al. Novel L558P mutation of the TGFBI gene found in Ukrainian families with atypical corneal dystrophy. Ophthalmologica. 2009;223:207-214.
26. Fujiki K, Hotta Y, Nakayasu K, et al. A new L527R mutation of the betaIGH3 gene in patients with lattice corneal dystrophy with deep stromal opacities. Hum Genet. 1998;103:286-289.
27. Hirano K, Hotta Y, Nakamura M, et al. Late-onset form of lattice corneal dystrophy caused by leu527Arg mutation of the TGFBI gene. Cornea. 2001;20:525-529.
28. Fukuoka H, Kawasaki S, Yamasaki K, et al. Lattice corneal dystrophy type IV (p.Leu527Arg) is caused by a founder mutation of the TGFBI gene in a single Japanese ancestor. Invest Ophthalmol Vis Sci. 2010;51:4523-4530.