Three autosomal dominant corneal dystrophies map to chromosome 5q

Stone, Edwin M.; Mathers, William D.; Rosenwasser, George O. D.; Holland, Edward J.; Folberg, Robert; Krachmer, Jay H.; Nichols, Brian E.; Gorevic, Peter D.; Taylor, Christopher M.; Streb, Luan M.; Fishbaugh, Jill A.; Daley, Thomas E.; Sucheski, Brian M.; Sheffield, Val C.

doi:10.1038/ng0194-47

Cited by 134 publications

(59 citation statements)

References 27 publications

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“…Second, we applied this technology to the identification of susceptible loci co-segregated with CGD2 in a series of pedigrees by applying parametric linkage analysis. Parametric single-point and multipoint linkage analyses using the SNP genotypes confirmed linkage to TGFBI and provided LOD scores better than those obtained using microsatellites, as reported by Stone et al (Stone et al, 1994). In addition, we found a new locus on 3q26.3 (rs6445141) co-segregated with CGD2 in Korean families.…”

Section: Discussionmentioning

confidence: 55%

Genome-wide scan of granular corneal dystrophy, type II: confirmation of chromosome 5q31 and identification of new co-segregated loci on chromosome 3q26.3

Lee

Kim

et al. 2011

Exp Mol Med

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Granular corneal dystrophy, type II (CGD2; Avellino corneal dystrophy) is the most common corneal dystrophy among Koreans, but its pathophysiology is still poorly understood. Many reports showed that even though the causative mutation is the same TGFBI R124H mutation, there are severe and mild phenotypes of the corneal dystrophy. We also observed the phenotype differences in our samples. For this reason, we focused our effort on the identification of unknown genetic factor related to phenotype variation. A total 551 individuals from 59 families were genotyped with SNP chip and used in genome-wide linkage analysis. From single-point linkage analyses, we confirmed the known 5q31 region for TGFBI gene, and selected novel nine candidate loci for CGD2. In simulation analysis, the only 3q26.3 region including neuroligin 1 gene (NLGN1) was supported by empirical statistic significance. To investigate the effect of genetic heterogeneity in linkage analysis, we classified CGD2 families into two subgroups. Although we could not find a significant evidence for correlation between the 3q26.3 region and CGD2 phenotypes, this first genome-wide analysis with CGD2 families in Korea has a very important value for offering insights in genetics of CGD2. In addition, the co-segregating loci with CGD2 including 3q26.3 would be a good target for further study to understand the pathophysiology of CGD2.

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Section: Discussionmentioning

confidence: 55%

Genome-wide scan of granular corneal dystrophy, type II: confirmation of chromosome 5q31 and identification of new co-segregated loci on chromosome 3q26.3

Lee

Kim

et al. 2011

Exp Mol Med

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“…1,2 Recent molecular analysis showed that different types of corneal dystrophies are caused by mutations in the transforming growth factor beta-induced gene (TGFBI), located on chromosome 5q31. [2][3][4] Several phenotypes are caused by specific mutations in the TGFBI gene such as: lattice corneal dystrophy type I (CDL1, OMIM122200), lattice corneal dystrophy type IIIA (LCDIIIA), granular corneal dystrophy (CDGG1, OMIM 121900), Avellino corneal dystrophy (ACD, OMIM 121900), Reis-Bü cklers's corneal dystrophy (CDRB, OMIM 121900), and Thiel-Behnke corneal dystrophy (CDB2, OMIM 602082). 1,4,5 Keratoepithelin, the protein product of the TGFBI gene, is an extracellular matrix protein expressed in many tissues including corneal epithelium.…”

Section: Introductionmentioning

confidence: 99%

“…The genotypic approach contributes to the assessment and refinement of the diagnosis of corneal dystrophies particularly in the atypical cases. 2,4,5 Mutations in the TGFBI gene have been described in patients from many nationalities. [7][8][9][10][11][12] We report the first series of Brazilian patients screened for mutations in the TGFBI gene.…”

Section: Introductionmentioning

confidence: 99%

TGFBI gene mutations in Brazilian patients with corneal dystrophy

Solari

Ventura

Perez

et al. 2006

Eye

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Purpose To investigate the transforming growth factor beta-induced gene (TGFBI) mutations in Brazilian patients with corneal dystrophy and to evaluate the phenotypegenotype correlation in these patients. Methods A total of 11 unrelated families were studied. The diagnosis of corneal dystrophy was based on clinical and histopathological findings. Genomic DNA was extracted from peripheral blood leucocytes, and exons 4 and 12 of the TGFBI gene were amplified by polymerase chain reaction followed by direct sequencing on both strands. Results Five different mutations in the TGFBI gene were found in the probands. We identified the following mutations: lattice corneal dystrophyFR124C and A546T; Reis-Bü cklers corneal dystrophyFR555Q and R124L; granular corneal dystrophyFR555W and Avellino dystrophyFR555W. In three of the 11 studied families there was no mutation in exons 4 and 12. Conclusions This is the first report of mutations in the TGFBI gene in a series of Brazilian patients with corneal dystrophy. The findings indicate that TGFBI gene screening should be considered in the diagnosis of corneal dystrophy.

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“…[14][15][16][17] Missense mutations in BIGH3 gene in family members of these dystrophies mapping to 5q have been reported. 18 Mutations at codon 124 have been associated with LCD (arginine to cysteine).…”

Section: Commentmentioning

confidence: 99%