|
Avellino corneal dystrophy
|
|
0.900 |
GeneticVariation
|
BEFREE |
The detection of the R124H BIGH3 mutation confirmed the diagnosis of ACD in the reported families.
|
18465714 |
2008 |
|
Avellino corneal dystrophy
|
|
0.900 |
GeneticVariation
|
BEFREE |
In 68 unrelated patients who had been diagnosed with GCD, 62 patients (91%) were found to have the R124H mutation, which has been reported to cause ACD, whereas only six patients (9%) had the R555W mutation.
|
10832717 |
2000 |
|
Avellino corneal dystrophy
|
|
0.900 |
GeneticVariation
|
BEFREE |
We established a granular corneal dystrophy type 2 mouse model caused by R124H mutation of human TGFBI.
|
26197481 |
2015 |
|
Avellino corneal dystrophy
|
|
0.900 |
GeneticVariation
|
BEFREE |
One mutation, generating an arginine to histidine amino acid substitution at position 124 in mature TGFBIp leads to granular corneal dystrophy type 2 (GCD2).
|
26864644 |
2016 |
|
Reis-Bucklers' corneal dystrophy
|
|
0.880 |
GeneticVariation
|
BEFREE |
The R124L mutation was shown to be causative of Reis-Bucklers corneal dystrophy in 2 families.
|
18259096 |
2008 |
|
Reis-Bucklers' corneal dystrophy
|
|
0.880 |
GeneticVariation
|
BEFREE |
On the other hand, a new kerato-epithelin mutation, Arg124Leu, was found to cause the RBCD variant characterized by recurrent epithelial erosions and progressive geographic subepithelial opacification.
|
9780098 |
1998 |
|
Reis-Bucklers' corneal dystrophy
|
|
0.880 |
GeneticVariation
|
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.
|
17198850 |
2007 |
|
Reis-Bucklers' corneal dystrophy
|
|
0.880 |
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.
|
22906289 |
2012 |
|
Reis-Bucklers' corneal dystrophy
|
|
0.880 |
GeneticVariation
|
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.
|
27348782 |
2016 |
|
Reis-Bucklers' corneal dystrophy
|
|
0.880 |
GeneticVariation
|
BEFREE |
The heterozygous c.371G > T (p.R124L) mutation was detected in exon 4 of the <i>TGFBI</i> gene in nine patients from the family with RBCD.
|
30805211 |
2019 |
|
Reis-Bucklers' corneal dystrophy
|
|
0.880 |
GeneticVariation
|
BEFREE |
Therefore, along with G623D and R124L, the R124C mutation in TGFBI is also found to be responsible for RBCD.
|
20360992 |
2010 |
|
Reis-Bucklers' corneal dystrophy
|
|
0.880 |
GeneticVariation
|
BEFREE |
A p.Arg124Leu mutation of the TGFBI gene was detected in this Chinese pedigree with Reis-Bücklers corneal dystrophy.
|
21899585 |
2012 |
|
Corneal dystrophy
|
|
0.100 |
GeneticVariation
|
BEFREE |
Multiple phototherapeutic keratectomy treatments in a Chinese pedigree with corneal dystrophy and an R124L mutation: a 20-year observational study.
|
31438893 |
2019 |
|
Corneal dystrophy
|
|
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.
|
21628991 |
2011 |
|
Granular Dystrophy, Corneal
|
|
0.100 |
GeneticVariation
|
BEFREE |
The family with the R124H mutation was diagnosed with granular corneal dystrophy type 2.
|
28358433 |
2017 |
|
Corneal dystrophy
|
|
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.
|
29192679 |
2018 |
|
Corneal dystrophy
|
|
0.100 |
GeneticVariation
|
BEFREE |
Varied appearance of cornea of patients with corneal dystrophy associated with R124H mutation in the BIGH3 gene.
|
10422854 |
1999 |
|
Corneal dystrophy
|
|
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).
|
11927442 |
2002 |
|
Granular Dystrophy, Corneal
|
|
0.100 |
GeneticVariation
|
BEFREE |
In GCD, 18 patients with GCD type I had a mutation of arginine 555-to-tryptophan (Arg555Trp) and 1 patient with GCD type III (Reis-Bucklers dystrophy), had the Arg124Leu mutation.
|
15623763 |
2005 |
|
Granular Dystrophy, Corneal
|
|
0.100 |
GeneticVariation
|
BEFREE |
Many Japanese patients with CD had ACD with R124H mutation.GCD with R555W mutation was rare.
|
11095060 |
2000 |
|
Granular Dystrophy, Corneal
|
|
0.100 |
GeneticVariation
|
BEFREE |
In 68 unrelated patients who had been diagnosed with GCD, 62 patients (91%) were found to have the R124H mutation, which has been reported to cause ACD, whereas only six patients (9%) had the R555W mutation.
|
10832717 |
2000 |
|
Corneal dystrophy
|
|
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.
|
20664689 |
2010 |
|
Granular Dystrophy, Corneal
|
|
0.100 |
GeneticVariation
|
BEFREE |
R124H mutation is the most prominent mutation type among GCD outpatients in Eastern China.
|
28377594 |
2017 |
|
Granular Dystrophy, Corneal
|
|
0.100 |
GeneticVariation
|
BEFREE |
All 34 patients with the R124L mutation displayed the clinical, histologic, and electron microscopic features of the dystrophy previously described as a superficial variant of corneal granular dystrophy.
|
10889112 |
2000 |
|
Corneal dystrophy
|
|
0.100 |
GeneticVariation
|
BEFREE |
All five patients with the severe form of corneal dystrophy had homozygous R124H keratoepithelin mutations.
|
9727418 |
1998 |