Identification and characterization of a novel TACSTD2 mutation in gelatinous drop-like corneal dystrophy

Molecular Vision

Volumn 16, Issue , 2010, Pages 729-739

  Paliwal, Preeti ^a   Gupta, Jaya ^b   Tandon, Radhika ^b   Sharma, Namrata ^b   Titiyal, Jeewan S ^b   Kashyap, Seema ^b   Sen, Seema ^b   Kaur, Punit ^a   Dube, Divya ^a   Sharma, Arundhati ^a   Vajpayee, Rasik B ^b,c  

^a ALL INDIA INSTITUTE OF MEDICAL SCIENCES   (India)

^b ALL INDIA INSTITUTE OF MEDICAL SCIENCES   (India)

^c UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

MEMBRANE PROTEIN; TUMOR ASSOCIATED CALCIUM SIGNAL TRANSDUCER 2; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHILD; CONFOCAL MICROSCOPY; CONTROLLED STUDY; CORNEA DYSTROPHY; CORNEA EPITHELIUM; FEMALE; GELATINOUS DROP LIKE CORNEA DYSTROPHY; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; IN VIVO STUDY; INDIA; KERATOPLASTY; MALE; MISSENSE MUTATION; MOLECULAR DYNAMICS; MOLECULAR MODEL; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN CONFORMATION; PROTEIN STRUCTURE; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; SLIT LAMP;

ADOLESCENT; ANTIGENS, NEOPLASM; CELL ADHESION MOLECULES; CHILD; CORNEAL DYSTROPHIES, HEREDITARY; FEMALE; HOMOZYGOTE; HUMANS; MALE; MICROSCOPY, CONFOCAL; MODELS, GENETIC; MODELS, MOLECULAR; MUTATION; MUTATION, MISSENSE; PEDIGREE; SEQUENCE HOMOLOGY; YOUNG ADULT;

EID: 77955614662     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (20)

1. Nakaizumi G. A rare case of corneal dystrophy. Acta Soc Ophthalmol Jpn 1914; 18:949-50.
2. Tsujikawa M, Kurahashi H, Tanaka T, Nishida K, Shimomura Y, Tano Y, Nakamura Y. Identification of the gene responsible for gelatinous drop-like corneal dystrophy. Nat Genet 1999; 21: 420-3. [PMID: 10192395]
3. Zhang B, Yao YF, Zhou P. Two novel mutations identified in two Chinese gelatinous drop-like corneal dystrophy families. Mol Vis 2007; 13: 988-92. [PMID: 17653040]
4. Stein R, Basu A, Chen S, Shih LB, Goldenberg DM. Specificity and properties of Mab RS7-3G11 and the antigen defined by this pancarcinoma monoclonal antibody. Int J Cancer 1993; 55: 938-46. [PMID: 8253531]
5. Ripani E, Sacchetti A, Corda D, Alberti S. Human TROP-2 is a tumor associated calcium signal transducer. Int J Cancer 1998; 76: 671-6. [PMID: 9610724]
6. Alavi A, Elahi E, Tehrani MH, Amoli FA, Javadi MA, Rafati N, Chiani M, Banihosseini SS, Bayat B, Kalhor R, Amini SS. Four mutations (three novel, one founder) in TACSTD2 among Iranian GDLD patients. Invest Ophthalmol Vis Sci 2007; 48: 4490-7. [PMID: 17898270]
7. Jing Y, Liu C, Wang L. A novel TACSTD2 mutation identified in two Chinese brothers with gelatinous drop-like corneal dystrophy. Mol Vis 2009; 15: 1580-8. [PMID: 19693293]
8. Kelley LA, Sternberg MJE, Protein structure prediction on the web: a case study using the Phyre server.Nat Protoc 2009436371 19247286
9. Wiederstein M Sipp lMJ Pro SA-web: interactive web service for the recognition of errors in three-dimensional structures of proteins. Nucleic Acids Res 200735W4071017517781
10. Taniguchi Y, Tsujikawa M, Hibino S, Tsujikawa K, Tanaka T, Kiridoushi A, Tano Y. A novel missense mutation in a Japanese patient with gelatinous droplike corneal dystrophy. Am J Ophthalmol 2005; 139: 186-8. [PMID: 15652848]
11. Klintworth GK, Iwata F, Munier FL, Schorderet DF, El Matri L, Theendakara V, Basti S, Reddy M, Hejtmancik JF. Allelic and locus heterogeneity in autosomal recessive gelatinous drop-like corneal dystrophy. Hum Genet 2002; 110: 568-77. [PMID: 12107443]
12. Markoff A, Bogdanova N, Uhlig CE, Groppe M, Horst J, Kennerknecht I. A novel TACSTD2 gene mutation in a Turkish family with a gelatinous drop-like corneal dystrophy. Mol Vis 2006; 12: 1473-6. [PMID: 17167402]
13. Ha NT, Chau HM, Cung LX, Thanh TK, Fujiki K, Murakami A, Kanai A. A novel mutation of M1S1 gene found in a Vietnamese patient with gelatinous drop-like corneal dystrophy. Am J Ophthalmol 2003; 135: 390-3. [PMID: 12614764]
14. Tian X, Fujiki K, Li Q, Murakami A, Xie P, Kanai A, Wang W, Liu Z. Compound heterozygous mutations of M1S1 gene in gelatinous drop like corneal dystrophy. Am J Ophthalmol 2004; 137: 567-9. [PMID: 15013888]
15. Ren Z, Lin PY, Klintworth GK, Iwata F, Munier FL, Schorderet DF, El Matri L, Theendakara V, Basti S, Reddy M, Hejtmancik JF. Allelic and locus heterogeneity in autosomal recessive gelatinous drop-like corneal dystrophy. Hum Genet 2002; 110:568-77. [PMID: 12107443]
16. Novinec M, Kordis D, Turk V, Lenarcic B. Diversity and evolution of the thyroglobulin type-1 domain superfamily. Mol Biol Evol 2006; 23: 744-55. [PMID: 16368776]
17. Fornaro M, Dell'Arciprete R, Stella M, Bucci C, Nutini M, Capri MG, Alberti S. Cloning of the gene encoding Trop-2, a cell-surface glycoprotein expressed by human carcinomas. Int J Cancer 1995; 62: 610-8. [PMID: 7665234]
18. Murakami A, Kimura S, Fujiki K, Fujimaki T, Kanai A. Mutations in the membrane component, chromosome 1, surface marker 1 (M1S1) gene in gelatinous drop-like corneal dystrophy. Jpn J Ophthalmol 2004; 48: 317-20. [PMID: 15295654]
19. Takaoka M, Nakamura T, Ban Y, Kinoshita S. Phenotypic investigation of cell junction-related proteins in gelatinous drop-like corneal dystrophy. Invest Ophthalmol Vis Sci 2007; 48:1095-101. [PMID: 17325151]
20. Klintworth GK, Sommer JR, Obrian G, Han L, Ahmed MN, Qumsiyeh MB, Lin PY, Basti S, Reddy MK, Kanai A, Hotta Y, Sugar J, Kumaramanickavel G, Munier F, Schorderet DF, El Matri L, Iwata F, Kaiser-Kupfer M, Nagata M, Nakayasu K, Hejtmancik JF, Teng CT. Familial subepithelial corneal amyloidosis (gelatinous drop-like corneal dystrophy): exclusion of linkage to lactoferrin gene. Mol Vis 1998; 4: 31. [PMID: 9873069]