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rs121909211
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0.100 |
GeneticVariation |
BEFREE |
Multiple phototherapeutic keratectomy treatments in a Chinese pedigree with corneal dystrophy and an R124L mutation: a 20-year observational study.
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31438893 |
2019 |
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rs121909211
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0.100 |
GeneticVariation |
BEFREE |
It is our intention to demonstrate that the pre-operative genetic screening for TGFBI mutations should be mandatory for refractive surgery candidates.Patients and MethodsIn this study, we reviewed the proband's post-LASIK slit-lamp and in vivo confocal microscopy images and genetic testing results, and performed genetic testing on eleven additional members of the family to investigate the penetrance of corneal dystrophy in asymptomatic members who carry the mutation.ResultsThe proband demonstrated a post-LASIK exacerbation of Granular Corneal Dystrophy type 2 (GCD2), identified as a TGFBI R124H mutation.
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29192679 |
2018 |
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rs121909211
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0.100 |
GeneticVariation |
BEFREE |
This study provides epidemiological insight into CDs in a Korean population and reaffirms that GCD2 is the most common TGFBI CD phenotype and that p.R124H is the only mutation identified in patients with GCD2.
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25932442 |
2015 |
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rs121909211
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0.100 |
GeneticVariation |
BEFREE |
As the RBCD phenotype is usually associated with an R124L mutation, this novel genotype-phenotype correlation may prompt further investigation of Bowman's layer corneal dystrophy.
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22906289 |
2012 |
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rs121909211
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0.100 |
GeneticVariation |
BEFREE |
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.
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21628991 |
2011 |
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rs121909211
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0.100 |
GeneticVariation |
BEFREE |
Five mutations of TGFBI were identified in 21 families with CDs, including one novel small deletion mutation, c.delta1838-1849 (p.Delta613-616VAEP), responsible for one variant lattice CD (LCD) family and 4 known mutations, R555W mutation for 10 granular cornea dystrophy type I (GCD1) families, R124H for 5 GCD type II (GCD2), R124C for 4 LCD1, and H626R for one variant LCD.
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20664689 |
2010 |
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rs121909211
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0.100 |
GeneticVariation |
BEFREE |
The corneal dystrophy-associated R124H mutation in TGFBI severely impairs interaction with periostin in vivo.
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19478074 |
2009 |
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rs121909211
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0.100 |
GeneticVariation |
BEFREE |
Diagnoses included Thiel-Benhke CD (TBCD/R555Q) (13 eyes), classic granular CD (CGCD/R555W) (28 eyes), superficial variant of granular dystrophy (SVGD/R124 l) (27 eyes), lattice CD type I (LCDI/R124C) (20 eyes), Avellino CD (ACD/R124H) (2 eyes), H626R-lattice dystrophy (LCD/H626R) (6 eyes), and two novel dystrophies: a French variant of granular dystrophy (FVGD/R124 l+DT125-DE126) (9 eyes) and a French lattice CD type IIIA (LCDIIIA/A546T) (5 eyes).
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11927442 |
2002 |
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rs121909211
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0.100 |
GeneticVariation |
BEFREE |
This study was designed to describe the clinical, histologic, and ultrastructural features of the corneal dystrophy associated with the R124L mutation of the BIGH3 gene.
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10889112 |
2000 |
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rs121909211
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0.100 |
GeneticVariation |
BEFREE |
Corneal guttata are one of the characteristics of the corneal dystrophy resulting from betaig-h3 R124H mutation.
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10611102 |
2000 |
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rs121909211
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0.100 |
GeneticVariation |
BEFREE |
Varied appearance of cornea of patients with corneal dystrophy associated with R124H mutation in the BIGH3 gene.
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10422854 |
1999 |
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rs121909211
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0.100 |
GeneticVariation |
BEFREE |
Codon 124 is a hot spot for kerato-epithelin mutations, where the mutations responsible for three autosomal dominant corneal dystrophies--lattice type I (Arg124Cys), Avellino (Arg124His), and the variant of RBCD with geographic rather than honeycomb opacities (Arg124Leu)--are located.
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9780098 |
1998 |
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rs121909211
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0.100 |
GeneticVariation |
BEFREE |
All five patients with the severe form of corneal dystrophy had homozygous R124H keratoepithelin mutations.
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9727418 |
1998 |
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rs121909210
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0.070 |
GeneticVariation |
BEFREE |
Granular type I corneal dystrophy in a large consanguineous Tunisian family with homozygous p.R124S mutation in the <i>TGFBI</i> gene.
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31322463 |
2019 |
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rs121909208
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0.070 |
GeneticVariation |
BEFREE |
The p. Arg555Trp mutation of the TGFBI gene was associated with TBCD, which revealed a novel phenotype-genotype correlation within the mutational spectrum of phenotypically diverse corneal dystrophies.
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26464103 |
2015 |
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rs121909210
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0.070 |
GeneticVariation |
BEFREE |
Patients with an R124C mutation may have clinical features like corneal dystrophy of the Bowman layer.
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25785536 |
2015 |
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rs121909210
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0.070 |
GeneticVariation |
BEFREE |
Seven lattice CD patients from four unrelated families had an identical p.H626R mutation in TGFBI, three patients from a single lattice CD family carried a p.R124C substitution in TGFBI, and a granular type 2 CD pedigree was demonstrated to carry a heterozygous TGFBI p.M619K substitution.
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24801599 |
2014 |
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rs121909208
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0.070 |
GeneticVariation |
BEFREE |
To gain insight into the mechanisms underlying the transforming growth factor-beta induced (TGFBI)-related corneal dystrophies and the influence of the Arg555Trp and Thr538Pro, TGFBI mutations on C-terminal cleavage and cell endoplasmic reticulum (ER) stress were investigated.
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22605926 |
2012 |
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rs121909208
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0.070 |
GeneticVariation |
BEFREE |
Five mutations of TGFBI were identified in 21 families with CDs, including one novel small deletion mutation, c.delta1838-1849 (p.Delta613-616VAEP), responsible for one variant lattice CD (LCD) family and 4 known mutations, R555W mutation for 10 granular cornea dystrophy type I (GCD1) families, R124H for 5 GCD type II (GCD2), R124C for 4 LCD1, and H626R for one variant LCD.
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20664689 |
2010 |
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rs121909210
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Five mutations of TGFBI were identified in 21 families with CDs, including one novel small deletion mutation, c.delta1838-1849 (p.Delta613-616VAEP), responsible for one variant lattice CD (LCD) family and 4 known mutations, R555W mutation for 10 granular cornea dystrophy type I (GCD1) families, R124H for 5 GCD type II (GCD2), R124C for 4 LCD1, and H626R for one variant LCD.
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20664689 |
2010 |
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rs121909208
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0.070 |
GeneticVariation |
BEFREE |
R124C and R555W TGFBI mutations cause lattice and granular type I corneal dystrophies in the studied families.
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17768377 |
2007 |
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rs121909210
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0.070 |
GeneticVariation |
BEFREE |
R124C and R555W TGFBI mutations cause lattice and granular type I corneal dystrophies in the studied families.
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17768377 |
2007 |
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rs121909208
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0.070 |
GeneticVariation |
BEFREE |
In our study, 5 previously reported mutations of the TGFBI gene - R124C, R124H, R124L (exon 4), R555W, R555Q (exon 12) - were analyzed using polymerase chain reaction followed by restriction digestion in 48 individuals from 19 unrelated families with different forms of corneal dystrophy from different regions of Ukraine.
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15564760 |
2005 |
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rs121909208
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0.070 |
GeneticVariation |
BEFREE |
Diagnoses included Thiel-Benhke CD (TBCD/R555Q) (13 eyes), classic granular CD (CGCD/R555W) (28 eyes), superficial variant of granular dystrophy (SVGD/R124 l) (27 eyes), lattice CD type I (LCDI/R124C) (20 eyes), Avellino CD (ACD/R124H) (2 eyes), H626R-lattice dystrophy (LCD/H626R) (6 eyes), and two novel dystrophies: a French variant of granular dystrophy (FVGD/R124 l+DT125-DE126) (9 eyes) and a French lattice CD type IIIA (LCDIIIA/A546T) (5 eyes).
|
11927442 |
2002 |
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rs121909210
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Diagnoses included Thiel-Benhke CD (TBCD/R555Q) (13 eyes), classic granular CD (CGCD/R555W) (28 eyes), superficial variant of granular dystrophy (SVGD/R124 l) (27 eyes), lattice CD type I (LCDI/R124C) (20 eyes), Avellino CD (ACD/R124H) (2 eyes), H626R-lattice dystrophy (LCD/H626R) (6 eyes), and two novel dystrophies: a French variant of granular dystrophy (FVGD/R124 l+DT125-DE126) (9 eyes) and a French lattice CD type IIIA (LCDIIIA/A546T) (5 eyes).
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11927442 |
2002 |