|
rs1484152128
|
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
|
0.010 |
GeneticVariation
|
BEFREE |
Both ARB patients harbored either proven (patient 1; c.102C>T p.Gly34Gly and c.572T>C p.Leu191Pro) or presumed (patient 2; c.102C>T p.Gly34Gly and c.1470_1471delCA, p.His490GlnfsX24) biallelic mutations in BEST1 and were found to have phenotypes consistent with ARB.
|
21203346 |
2010 |
|
rs267606680
|
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
|
0.010 |
GeneticVariation
|
BEFREE |
A clinical picture similar to autosomal recessive bestrophinopathy can also be caused by a single heterozygous mutation in the BEST1 gene, such as the c.614T>C (p.I205T) variant in this family.
|
26716959 |
2016 |
|
rs281865223
|
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
|
0.010 |
GeneticVariation
|
BEFREE |
Further, the inheritance pattern of BEST1 mutations in the families confirmed the diagnosis of ARB in probands in families A, B and C, while the inheritance of heterozygous BEST1 mutation in family D (p.Thr91Ile) was suggestive of BVMD.
|
29976937 |
2018 |
|
rs281865258
|
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
|
0.010 |
GeneticVariation
|
BEFREE |
Of them, 14 were associated with ARB, 23 with BVMD and two (c.604C>T and c.898G>A) with both BVMD and ARB.
|
31519547 |
2019 |
|
rs28940273
|
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
|
0.010 |
GeneticVariation
|
BEFREE |
However, it showed larger currents than other BEST1 mutants, p.Trp93Cys, causing autosomal dominant best vitelliform macular dystrophy (BVMD), and p.Ala195Val, causing autosomal recessive bestrophinopathy (ARB).
|
28831140 |
2017 |
|
rs374772670
|
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
|
0.010 |
GeneticVariation
|
BEFREE |
Of them, 14 were associated with ARB, 23 with BVMD and two (c.604C>T and c.898G>A) with both BVMD and ARB.
|
31519547 |
2019 |
|
rs762398929
|
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
|
0.010 |
GeneticVariation
|
BEFREE |
Sanger sequencing of all exons of the BEST1 gene in both families identified two new mutations: a missense mutation c.C91A [p.L31 M] at the N-terminal transmembrane domain within the ARB family and a nonsense mutation C1550G (p.S517X) in the C-terminal domain segregating in the BVMD family.
|
31254423 |
2019 |
|
rs771898125
|
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
|
0.010 |
GeneticVariation
|
BEFREE |
Both ARB patients harbored either proven (patient 1; c.102C>T p.Gly34Gly and c.572T>C p.Leu191Pro) or presumed (patient 2; c.102C>T p.Gly34Gly and c.1470_1471delCA, p.His490GlnfsX24) biallelic mutations in BEST1 and were found to have phenotypes consistent with ARB.
|
21203346 |
2010 |
|
rs1417478879
|
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
|
0.700 |
GeneticVariation
|
UNIPROT |
|
|
|
|
rs1431752515
|
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs1554963305
|
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
C |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs1554964287
|
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
G |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs1565392261
|
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs267606678
|
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
|
0.700 |
GeneticVariation
|
UNIPROT |
|
|
|
|
rs281865225
|
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs281865238
|
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs752521456
|
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
The spectrum of ocular phenotypes caused by mutations in the BEST1 gene.
|
19375515 |
2009 |
|
rs753614067
|
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
G |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs775283269
|
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs121918286
|
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
|
0.710 |
GeneticVariation
|
BEFREE |
Lastly, we find that the ARB truncation mutants L174Qfs*57 and R200X can form oligomers with WT Best1, indicating that the first ∼174 amino acids of Best1 are sufficient for oligomerization to occur.
|
24560797 |
2014 |
|
rs121918286
|
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
T |
0.710 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs199529046
|
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
C |
0.710 |
GeneticVariation
|
CLINVAR |
Two novel combinations of missense mutations in the BEST1 gene were identified: p.R141H/p.M325T in three patients with ARB in two unrelated Norwegian families, and p.R141H/p.I201T was found in an ARB patient in a Swedish family.
|
26333019 |
2016 |
|
rs199529046
|
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
|
0.710 |
GeneticVariation
|
BEFREE |
We have shown that the two novel combinations of compound heterozygous mutations p.R141H/p.M325T and p.R141H/p.I201T in the BEST1 gene can also lead to the ARB phenotype.
|
26333019 |
2016 |
|
rs199529046
|
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
C |
0.710 |
GeneticVariation
|
CLINVAR |
A novel compound heterozygous mutation in the BEST1 gene causes autosomal recessive Best vitelliform macular dystrophy.
|
22422030 |
2012 |
|
rs199529046
|
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
C |
0.710 |
GeneticVariation
|
CLINVAR |
Allelic variation in the VMD2 gene in best disease and age-related macular degeneration.
|
10798642 |
2000 |