|
Lattice corneal dystrophy Type I
|
|
0.710 |
GeneticVariation
|
BEFREE |
R124C and H626R mutations of TGFBI gene caused LCD in Vietnamese people.
|
12770961 |
2003 |
|
Lattice corneal dystrophy Type I
|
|
0.710 |
GeneticVariation
|
UNIPROT |
|
|
|
|
Familial Amyloid Polyneuropathy, Type V
|
|
0.040 |
GeneticVariation
|
BEFREE |
Proteomic Analysis of Amyloid Corneal Aggregates from TGFBI-H626R Lattice Corneal Dystrophy Patient Implicates Serine-Protease HTRA1 in Mutation-Specific Pathogenesis of TGFBIp.
|
28689406 |
2017 |
|
Familial Amyloid Polyneuropathy, Type V
|
|
0.040 |
GeneticVariation
|
BEFREE |
One family, with the R124C mutation, was diagnosed with lattice corneal dystrophy type 1, and the family with the H626R mutation was diagnosed with lattice corneal dystrophy type IIIB.
|
28358433 |
2017 |
|
Familial Amyloid Polyneuropathy, Type V
|
|
0.040 |
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 |
|
Familial Amyloid Polyneuropathy, Type V
|
|
0.040 |
GeneticVariation
|
BEFREE |
H626R and R124C mutations of the TGFBI (BIGH3) gene caused lattice corneal dystrophy in Vietnamese people.
|
12770961 |
2003 |
|
Corneal dystrophy
|
|
0.020 |
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 |
|
Corneal dystrophy
|
|
0.020 |
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 |
|
Plaque, Amyloid
|
|
0.010 |
GeneticVariation
|
BEFREE |
Congo red staining of the H626R-LCD cornea showed amyloid deposits in the subepithelial and stromal layers.
|
12770961 |
2003 |
|
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 |