|
Thiel-Behnke corneal dystrophy
|
|
0.840 |
GeneticVariation
|
BEFREE |
The R555Q mutation in Thiel-Behnke corneal dystrophy is not as rare in Taiwan as it is in other Asian countries.
|
22355247 |
2012 |
|
Thiel-Behnke corneal dystrophy
|
|
0.840 |
GeneticVariation
|
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]).
|
22876129 |
2012 |
|
Thiel-Behnke corneal dystrophy
|
|
0.840 |
GeneticVariation
|
BEFREE |
A family with Thiel-Behnke corneal dystrophy exhibited an R555Q mutation.
|
18259096 |
2008 |
|
Thiel-Behnke corneal dystrophy
|
|
0.840 |
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 |
|
Thiel-Behnke corneal dystrophy
|
|
0.840 |
GeneticVariation
|
UNIPROT |
|
|
|
|
Thiel-Behnke corneal dystrophy
|
|
0.840 |
CausalMutation
|
CLINVAR |
|
|
|
|
Reis-Bucklers' corneal dystrophy
|
|
0.040 |
GeneticVariation
|
BEFREE |
In this Chinese family an R555Q mutation of the TGFBI gene was associated with RBCD.
|
22906289 |
2012 |
|
Corneal dystrophy
|
|
0.040 |
GeneticVariation
|
BEFREE |
The R555Q mutation occurred spontaneously and independently in the 2 unrelated CDB families and was confirmed to be transmitted to the next generation in 1 of the 2 families.
|
17980739 |
2007 |
|
Reis-Bucklers' corneal dystrophy
|
|
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 |
|
Corneal dystrophy
|
|
0.040 |
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.
|
15564760 |
2005 |
|
Corneal dystrophy
|
|
0.040 |
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 |
|
Reis-Bucklers' corneal dystrophy
|
|
0.040 |
GeneticVariation
|
BEFREE |
A R555Q mutation was detected in the patients with RBCD.
|
11095060 |
2000 |
|
Corneal dystrophy
|
|
0.040 |
GeneticVariation
|
BEFREE |
Records of patients carrying this mutation were compared with those from three unrelated patients with corneal dystrophy of Bowman's layer (CDB) type 2 (R555Q mutation) and from three unrelated patients with classic corneal granular dystrophy (R555W mutation).
|
10889112 |
2000 |
|
Reis-Bucklers' corneal dystrophy
|
|
0.040 |
GeneticVariation
|
BEFREE |
The variant of RBCD characterized by honeycomb-shaped opacities is caused by an Arg555Gln kerato-epithelin mutation.
|
9780098 |
1998 |
|
Familial Amyloid Polyneuropathy, Type V
|
|
0.020 |
GeneticVariation
|
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]).
|
22876129 |
2012 |
|
Avellino corneal dystrophy
|
|
0.020 |
GeneticVariation
|
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]).
|
22876129 |
2012 |
|
Familial Amyloid Polyneuropathy, Type V
|
|
0.020 |
GeneticVariation
|
BEFREE |
Finally, the Bowman's layer CD was linked to the association in cis of the p.Met502Val and p.Arg555Gln variants, leading to the reclassification of this CD as atypical Thiel-Behnke CD.
|
21617751 |
2011 |
|
Thiel-behnke
|
|
0.020 |
GeneticVariation
|
BEFREE |
Finally, the Bowman's layer CD was linked to the association in cis of the p.Met502Val and p.Arg555Gln variants, leading to the reclassification of this CD as atypical Thiel-Behnke CD.
|
21617751 |
2011 |
|
Thiel-behnke
|
|
0.020 |
GeneticVariation
|
BEFREE |
A R555W heterozygous mutation was detected in five patients with granular Groenouw type I corneal dystrophy and a R555Q heterozygous mutation was found in four patients clinically diagnosed with Reis-Bücklers (one patient) and Thiel-Behnke (three patients) dystrophy.
|
17982422 |
2007 |
|
Avellino corneal dystrophy
|
|
0.020 |
GeneticVariation
|
BEFREE |
R124H, R124C, R555W, and R555Q mutations have been reported in Europe to cause ACD, LCD type I, GCD, and RBCD, respectively.
|
10832717 |
2000 |
|
Groenouw corneal dystrophy type I (disorder)
|
|
0.010 |
GeneticVariation
|
BEFREE |
A R555W heterozygous mutation was detected in five patients with granular Groenouw type I corneal dystrophy and a R555Q heterozygous mutation was found in four patients clinically diagnosed with Reis-Bücklers (one patient) and Thiel-Behnke (three patients) dystrophy.
|
17982422 |
2007 |
|
Dystrophy, granular
|
|
0.010 |
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
|
|
0.010 |
GeneticVariation
|
BEFREE |
Records of patients carrying this mutation were compared with those from three unrelated patients with corneal dystrophy of Bowman's layer (CDB) type 2 (R555Q mutation) and from three unrelated patients with classic corneal granular dystrophy (R555W mutation).
|
10889112 |
2000 |