Corneal Dystrophy, Lattice Type IIIA
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0.010 |
GeneticVariation
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BEFREE |
In our study, thirty patients from five pedigrees and ten sporadic patients were diagnosed as four TGFBI gene-linked corneal dystrophies of granular corneal dystrophy type I (GGCD I), Avellino corneal dystrophy (ACD), lattice corneal dystrophy type I (LCD I), and lattice corneal dystrophy type IIIA (LCD IIIA), and in total, seven disease-causing mutations, namely R555W, A546D, A546T, and T538P mutations in exon 12, R124H and R124C mutations in exon 4, and P501T mutation in exon 11, were identified, while four polymorphisms of V327V, L472L, F540F, and 1665-1666insC were screened in exons 8, 11, and 12.
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21462384 |
2011 |
Plaque, Amyloid
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0.010 |
GeneticVariation
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BEFREE |
A novel TGFBI phenotype with amyloid deposits and Arg124Leu mutation.
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21447988 |
2011 |
Corneal deposit
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0.010 |
GeneticVariation
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BEFREE |
Our results demonstrate that both granular and lattice corneal deposits can be associated with R124C mutation in addition to the more common R124H mutation.
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20697279 |
2010 |
Neoplasms
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0.010 |
GeneticVariation
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BEFREE |
The finding of R124H in the Middle Eastern (Iranian) population supports the proposal that perhaps only substitution of histidine for arginine at position 124 of tumour growth factor beta induced protein results in the Avellino corneal dystrophy phenotype.
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18290950 |
2008 |
Thiel-Behnke corneal dystrophy
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0.010 |
GeneticVariation
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BEFREE |
Two patients from one pedigree (a 29-year-old woman and 58-year-old man) with Thiel-Behnke corneal dystrophy (Arg555Gln [R555Q] heterozygous missense mutation of human transforming growth factor beta-induced [TGFBI] gene) and 3 patients from one pedigree (a 70-year-old woman, 58-year-old man, and 14-year old man) with Reis-Bücklers corneal dystrophy (Arg124Leu [R124L] heterozygous missense mutation of the TGFBI gene) were examined.
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17198850 |
2007 |
Stromal Dystrophies, Corneal
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0.010 |
GeneticVariation
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BEFREE |
Avellino corneal dystrophy associated with the R124H mutation is the most common form of corneal stromal dystrophy in Japan.
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11024425 |
2000 |
Amyloidosis
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0.010 |
GeneticVariation
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BEFREE |
Herein, we studied the corneas with mutations at kerato-epithelin residue Arg-124 resulting in amyloid (R124C), non-amyloid (R124L), and a mixed pattern of deposition (R124H).
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10753964 |
2000 |
Corneal guttata
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0.020 |
GeneticVariation
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BEFREE |
We report, for the first time, atypical granular corneal dystrophy type 2 with cornea guttata associated with a single R124H mutation in a Chinese family.
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30871369 |
2019 |
Corneal guttata
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0.020 |
GeneticVariation
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BEFREE |
Corneal guttata associated with the corneal dystrophy resulting from a betaig-h3 R124H mutation.
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10611102 |
2000 |
Familial Amyloid Polyneuropathy, Type V
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0.030 |
GeneticVariation
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BEFREE |
For the three families, a single heterozygous c.371G>T (R124L) point mutation was found in exon 4 of TGFBI in 14 affected members with RBCD, a single heterozygous c.370C>T (R124C) point mutation was found in exon 4 of TGFBI in four affected members with LCDI, and a single heterozygous c.1877A>G (H626R) point mutation was found in exon 14 of TGFBI in four affected members with LCDI/IIIA.
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27348782 |
2016 |
Familial Amyloid Polyneuropathy, Type V
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0.030 |
GeneticVariation
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BEFREE |
All subjects recruited exhibited a range of corneal dystrophies, including Thiel-Behnke corneal dystrophy (TBCD, R555Q; 6 families and 4 individuals), granular corneal dystrophy type 2 (GCD2, R124H; 61 families and 80 individuals), lattice corneal dystrophy (LCD; 4 families and 5 individuals; 7 with type 1 [R124C], and 2 with a variant [L527R, P542R]).
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22876129 |
2012 |
Familial Amyloid Polyneuropathy, Type V
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0.030 |
GeneticVariation
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BEFREE |
The incidence of mutations was ranked as follows: 118 patients (72%), the R124H mutation associated with Avellino corneal dystrophy; 23 patients (14%), the R124C mutation associated with lattice corneal dystrophy type 1; and 10 patients (6%), the P501T mutation associated with lattice corneal dystrophy type 3A.
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11024425 |
2000 |
Lattice corneal dystrophy Type I
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0.040 |
GeneticVariation
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BEFREE |
The fact that the 43-kDa protein fragment was present primarily in R124C and R124H but not in WT implicates its potential role in the protein deposits of LCD.
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21948648 |
2011 |
Dystrophy, granular
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0.040 |
GeneticVariation
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BEFREE |
Three patients with "atypical granular" dystrophy later diagnosed as Avellino dystrophy were heterozygous for the R124H mutation.
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17982422 |
2007 |
Dystrophy, granular
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0.040 |
GeneticVariation
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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 |
Lattice corneal dystrophy Type I
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0.040 |
GeneticVariation
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BEFREE |
In exon 4, an R124H mutation associated with Avellino corneal dystrophy (ACD) was found in 39/44 families (86.4%) and an R124C mutation associated with lattice corneal dystrophy type 1 (LCD1) was detected in 2/44 families (4.5%).
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12225829 |
2002 |
Dystrophy, granular
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0.040 |
GeneticVariation
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BEFREE |
We identified mutations R124C in the CDL1 family and R124H in four families with a granular dystrophy.
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11685063 |
2001 |
Lattice corneal dystrophy Type I
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0.040 |
GeneticVariation
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BEFREE |
Six patients with Avellino corneal dystrophy (ACD) associated with R124H, one patient with superficial granular corneal dystrophy (SGCD) associated with R124L, and seven patients with lattice corneal dystrophy type 1 (CDL1) associated with R124C were examined.
|
11262611 |
2000 |
Lattice corneal dystrophy Type I
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0.040 |
GeneticVariation
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BEFREE |
The incidence of mutations was ranked as follows: 118 patients (72%), the R124H mutation associated with Avellino corneal dystrophy; 23 patients (14%), the R124C mutation associated with lattice corneal dystrophy type 1; and 10 patients (6%), the P501T mutation associated with lattice corneal dystrophy type 3A.
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11024425 |
2000 |
Dystrophy, granular
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0.040 |
GeneticVariation
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BEFREE |
Arg124His mutation of the betaig-h3 gene was found in a pedigree with granular dystrophy.
|
9603385 |
1998 |
Corneal dystrophy
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0.100 |
GeneticVariation
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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 |
Corneal dystrophy
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0.100 |
GeneticVariation
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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 |
Granular Dystrophy, Corneal
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0.100 |
GeneticVariation
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BEFREE |
The family with the R124H mutation was diagnosed with granular corneal dystrophy type 2.
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28358433 |
2017 |
Granular Dystrophy, Corneal
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0.100 |
GeneticVariation
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BEFREE |
R124H mutation is the most prominent mutation type among GCD outpatients in Eastern China.
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28377594 |
2017 |
Granular Dystrophy, Corneal
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0.100 |
GeneticVariation
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BEFREE |
To correct genetic defects in GCD patient cells, we designed a disease-specific guide RNA (gRNA) targeting the R124H mutation of TGFBI, which causes GCD type 2 (GCD2).
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29196743 |
2017 |