|
Avellino corneal dystrophy
|
|
0.900 |
GeneticVariation
|
BEFREE |
Many Japanese patients with CD had ACD with R124H mutation.GCD with R555W mutation was rare.
|
11095060 |
2000 |
|
Avellino corneal dystrophy
|
|
0.900 |
GeneticVariation
|
BEFREE |
Avellino corneal dystrophy associated with the R124H mutation is the most common form of corneal stromal dystrophy in Japan.
|
11024425 |
2000 |
|
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 |
The R124H keratoepithelin mutation is the same mutation recently reported to be responsible for Avellino corneal dystrophy.
|
9727418 |
1998 |
|
Avellino corneal dystrophy
|
|
0.900 |
CausalMutation
|
CLINVAR |
|
|
|
|
Avellino corneal dystrophy
|
|
0.900 |
CausalMutation
|
CLINVAR |
|
|
|
|
Avellino corneal dystrophy
|
|
0.900 |
GeneticVariation
|
UNIPROT |
|
|
|
|
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 |
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 |
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 |
A p.Arg124Leu mutation of the TGFBI gene was detected in this Chinese pedigree with Reis-Bücklers corneal dystrophy.
|
21899585 |
2012 |
|
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 |
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 |
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
|
UNIPROT |
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 |
|
Reis-Bucklers' corneal dystrophy
|
|
0.880 |
GeneticVariation
|
UNIPROT |
A common beta ig-h3 gene mutation (delta f540) in a large cohort of Sardinian Reis Bücklers corneal dystrophy patients. Mutations in brief no. 180. Online.
|
10660331 |
1998 |
|
Reis-Bucklers' corneal dystrophy
|
|
0.880 |
GeneticVariation
|
UNIPROT |
Two distinct kerato-epithelin mutations in Reis-Bücklers corneal dystrophy.
|
9780098 |
1998 |
|
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 |
CausalMutation
|
CLINVAR |
|
|
|
|
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 |
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 |
|
Granular Dystrophy, Corneal
|
|
0.100 |
GeneticVariation
|
BEFREE |
The family with the R124H mutation was diagnosed with granular corneal dystrophy type 2.
|
28358433 |
2017 |
|
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 |
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).
|
29196743 |
2017 |
|
Corneal dystrophy
|
|
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.
|
25932442 |
2015 |