|
rs121909211
|
|
|
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 |
|
rs121909211
|
|
|
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 |
|
rs121909211
|
|
|
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 |
|
rs121909211
|
|
|
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 |
|
rs121909211
|
|
|
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 |
|
rs121909211
|
|
|
0.880 |
GeneticVariation |
BEFREE |
The R124L mutation was shown to be causative of Reis-Bucklers corneal dystrophy in 2 families.
|
18259096 |
2008 |
|
rs121909211
|
|
|
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 |
|
rs121909211
|
|
|
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 |
|
rs121909211
|
|
|
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 |
|
rs121909211
|
|
|
0.880 |
GeneticVariation |
UNIPROT |
Two distinct kerato-epithelin mutations in Reis-Bücklers corneal dystrophy.
|
9780098 |
1998 |
|
rs121909211
|
|
|
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 |
|
rs121909211
|
|
T |
0.880 |
CausalMutation |
CLINVAR |
|
|
|
|
rs121909215
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Therefore, along with G623D and R124L, the R124C mutation in TGFBI is also found to be responsible for RBCD.
|
20360992 |
2010 |
|
rs121909215
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Affected members of the family with Reis-Bücklers dystrophy did not carry the previously reported mutations Arg555Gln or Arg124Leu but instead carried a novel missense mutation Gly623Asp in the BIGH3 gene.
|
11146721 |
2001 |
|
rs121909215
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
|
|
|
|
rs121909209
|
|
|
0.040 |
GeneticVariation |
BEFREE |
In this Chinese family an R555Q mutation of the TGFBI gene was associated with RBCD.
|
22906289 |
2012 |
|
rs121909209
|
|
|
0.040 |
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 |
|
rs121909209
|
|
|
0.040 |
GeneticVariation |
BEFREE |
A R555Q mutation was detected in the patients with RBCD.
|
11095060 |
2000 |
|
rs121909209
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The variant of RBCD characterized by honeycomb-shaped opacities is caused by an Arg555Gln kerato-epithelin mutation.
|
9780098 |
1998 |
|
rs121909210
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Therefore, along with G623D and R124L, the R124C mutation in TGFBI is also found to be responsible for RBCD.
|
20360992 |
2010 |
|
rs121909210
|
|
|
0.030 |
GeneticVariation |
BEFREE |
As far as the R124C mutation detected in 1 patient with clinically diagnosed Reis-Bucklers corneal dystrophy is concerned, we concluded that this patient was misdiagnosed.
|
15564760 |
2005 |
|
rs121909210
|
|
|
0.030 |
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.
|
9780098 |
1998 |
|
rs121909208
|
|
|
0.010 |
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 |
|
rs762267106
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Affected members of the family with Reis-Bücklers dystrophy did not carry the previously reported mutations Arg555Gln or Arg124Leu but instead carried a novel missense mutation Gly623Asp in the BIGH3 gene.
|
11146721 |
2001 |