p.Ala546 > Asp and p.Arg555 > Trp mutations of TGFBI gene and their clinical manifestations in two large Chinese families with granular corneal dystrophy type I

Genetic Testing

Volumn 12, Issue 3, 2008, Pages 421-425

  Yu, Ping ^a   Gu, Yangshun ^a,b   Jin, Fan ^a   Hu, Rongrong ^b   Chen, Lili ^b   Yan, Xiaoyi ^a   Yang, Yuehong ^a   Qi, Ming ^a,b,c,d  

^a ZHEJIANG UNIVERSITY SCHOOL OF MEDICINE   (China)

^b First Affiliated Hospital   (China)

^c ZHEJIANG UNIVERSITY   (China)

^d UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ARGININE; ASPARTIC ACID; TRANSFORMING GROWTH FACTOR BETA; TRYPTOPHAN;

ADOLESCENT; ADULT; AGED; ARTICLE; CHINESE; CLINICAL ARTICLE; CLINICAL EVALUATION; CLINICAL FEATURE; CONTROLLED STUDY; CORNEA DYSTROPHY; DISEASE SEVERITY; FEMALE; GENE; GENE AMPLIFICATION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; ONSET AGE; PENETRANCE; POLYMERASE CHAIN REACTION; RETINA IMAGE; SINGLE STRAND CONFORMATION POLYMORPHISM; TGFBI GENE;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; AMINO ACID SUBSTITUTION; ASIAN CONTINENTAL ANCESTRY GROUP; ASPARTIC ACID; CASE-CONTROL STUDIES; CORNEAL DYSTROPHIES, HEREDITARY; DNA MUTATIONAL ANALYSIS; EXTRACELLULAR MATRIX PROTEINS; FAMILY; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; TRANSFORMING GROWTH FACTOR BETA; TRYPTOPHAN; YOUNG ADULT;

EID: 50649107052     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/gte.2008.0005     Document Type: Article

References (15)

1. Aldave AJ, Gutmark JG, Yellore VS, et al. (2004) Lattice corneal dystrophy associated with the Ala546Asp and Pro551Gln missense changes in the TGFBI gene. Am J Ophthalmol 138:772-781.
2. Dighiero P, Drunat S, Ellies P, et al. (2000) A new mutation (A546T) of the βig-h3 gene responsible for a French lattice corneal dystrophy type IIIA. Am J Ophthalmol 129:248-251.
3. Eifrig DE, Afshari NA, Buchanan HW, et al. (2004) Polymorphic corneal amyloidosis: a disorder due to a novel mutation in the transforming growth factor β-induced (BIGH3) gene. Ophthalmology 111:1108-1114.
4. Hou YC, Hu FR, Chen MS (2003) An autosomal dominant granular corneal dystrophy family associated with R555W mutation in the BIGH3 gene. J Formos Med Assoc 102:117-120.
5. Konishi M, Mashima Y, Yamada M, et al. (1998) The classic form of granular corneal dystrophy associated with R555W mutation in the BIGH3 gene is rare in Japanese patients. Am J Ophthalmol 126:450-452.
6. Korvatska E, Munier FL, Djemai A, et al. (1998) Mutation hot spots in 5q31-linked corneal dystrophies. Am J Hum Genet 62:320-324.
7. Mashima Y, Yamamoto S, Inoue Y, et al. (2000) Association of autosomal dominantly inherited corneal dystrophies with BIGH3 gene mutations in Japan. Am J Ophthalmol 130:516-517.
8. Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215.
9. Munier FL, Frueh BE, Othenin-Girard P, et al. (2002) BIGH3 mutation spectrum in corneal dystrophies. Invest Ophthalmol Vis Sci 43:949-954.
10. Munier FL, Korzatska E, Djemay A, et al. (1997) Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. Nat Genet 15:247-251.
11. Okada M, Yamamoto S, Watanabe H, et al. (1998) Granular corneal dystrophy with homozygous mutations in the keratoepithelin gene. Am J Ophthalmol 126:169-176.
12. Stewart HS, Ridgway AE, Dixon MJ, et al. (1999) Heterogeneity in granular corneal dystrophy: identification of three causative mutations in the TGFBI (BIGH3) gene-lessons for corneal amyloidogenesis. Hum Mutat 14:126-132.
13. Vincent AL, Patel DV, McGhee CN (2005) Inherited corneal disease: the evolving molecular, genetic and imaging revolution. Clin Experiment Ophthalmol 33:303-316.
14. Yoshida S, Kumano Y, Yoshida A, et al. (2002) An analysis of BIGH3 mutations in patients with corneal dystrophies in the Kyushu district of Japan. Jpn J Ophthalmol 46:469-471.
15. Yu P, Gu YS, Yang YH, et al. (2006) A clinical and molecular-genetic analysis of Chinese patients with lattice corneal dystrophy and novel Thr538Pro mutation in the TGFBI (BIGH3) gene. J Genet 85:73-76.