|
rs121918284
|
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
|
0.820 |
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 |
|
rs121918284
|
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
|
0.820 |
GeneticVariation
|
BEFREE |
The combination of Best1 and Best1 R141H does not cause disease, while Best1 R141H together with Best1 I366fsX18 causes ARB.
|
26200502 |
2015 |
|
rs200277476
|
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
|
0.810 |
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 |
|
rs121918287
|
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
|
0.810 |
GeneticVariation
|
BEFREE |
Two ARB-associated mutants (p.D312N and p.V317M) that were not trafficked correctly nor targeted to the proteasome had a distinctive appearance, possibly indicative of aggresome or aggresome-like inclusion bodies.
|
21330666 |
2011 |
|
rs765998048
|
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
|
0.710 |
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 |
|
rs368387447
|
|
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 |
|
rs281865277
|
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
|
0.710 |
GeneticVariation
|
BEFREE |
Two ARB-associated mutants (p.D312N and p.V317M) that were not trafficked correctly nor targeted to the proteasome had a distinctive appearance, possibly indicative of aggresome or aggresome-like inclusion bodies.
|
21330666 |
2011 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
rs121918284
|
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
A |
0.820 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs200277476
|
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy.
|
26720466 |
2015 |
|
rs200277476
|
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy.
|
21330666 |
2011 |
|
rs200277476
|
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
Autosomal recessive vitelliform macular dystrophy in a large cohort of vitelliform macular dystrophy patients.
|
21273940 |
2011 |
|
rs200277476
|
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
Cortical image density determines the probability of target discovery during active search.
|
10788642 |
2000 |
|
rs121918287
|
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
A |
0.810 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs121918288
|
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
C |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
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 |