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Overview of included studies for PFBC-MYORG:
Click here for summary of patients' characteristics
Click here to show world map of all countries
Filter for
all included patients
index patients only
AAO < 50 (adjustable)
AAO >= 50 (adjustable)
females only
males only
homozygous only
heterozygous only
compound heterozygous only
homozygous and compound heterozygous
carrying
definitely pathogenic mutations
probably pathogenic mutations
possibly pathogenic mutations
c.103A>G
c.1060_1062delGAC
c.1078delT
c.1118C>A
c.1233delC
c.1270_1277dupCGCTGGTG
c.1300G>C
c.1321C>G
c.1328G>A
c.1333C>T
c.1394dupG
c.1427C>A
c.1431C>A
c.1487C>T
c.1511G>C
c.1530delG
c.1538_1540delCCT
c.1634G>A
c.176G>A
c.1831C>T
c.1865T>C
c.191G>A
c.1967T>C
c.2038G>A
c.2087_2088delTG
c.225G>A
c.325C>T
c.337_348dup
c.338T>G
c.373_394delinsG
c.428_442delTGCACTTCTTCATCC
c.607C>T
c.679C>G
c.687G>T
c.695C>T
c.706_708dupGCC
c.747G>C
c.782G>T
c.782_783GC>TT
c.854_855dupTG
c.893G>C
c.940C>T
Country
Brazil
Canada
China
Italy
Turkey
Study
Study design
N cases
Ethnicities
Sex
(%
♂
)
Mean AAO (+/- SD)
Reported mutations
Saranza, 2020
Case report/Case series
1
A
0%
n.a.
p.Arg611Trp
: hom
Chelban, 2020
Mutational screen
8
n.a.
38%
n.a.
p.Gly59Asp
: hom
p.Pro496Leu
: hom
p.Gly545Asp
: het
p.Leu696Profs*10
: het
p.Gly680Ser
: het
p.Gln109*
: het
p.Trp426Cysfs*11
: het
Show more (+4)
Chen, 2020
Mutational screen
8
A
63%
n.a.
p.Arg113_Ser116dup
: hom
p.Arg227Gly
+
p.Arg504Pro
: comp. het.
p.Ile656Thr
+
p.Arg261Leu
: comp. het.
p.Ile656Thr
: hom
p.Arg298Pro
: hom
p.Gly64Glu
: hom
Show more (+3)
Taglia, 2019
Family study
2
C
50%
n.a.
p.Arg314*
+
p.Cys125_Leu132delinsVal
: comp. het.
Ferreira, 2019
Mutational screen
1
n.a.
0%
n.a.
p.Gly286Trpfs*149
: hom
Grangeon, 2019
Mutational screen
13
n.a.
54%
n.a.
p.Leu622Pro
+
p.Leu113Arg
: comp. het.
p.Thr476Asn
+
p.Ile656Thr
: comp. het.
p.Asp434His
: hom
p.Trp249Cys
: hom
p.Arg113_Ser116dup
+
p.Arg611Trp
: comp. het.
p.Ser513del
+
p.Ala373Asp
: comp. het.
p.Ala236dup
: hom
p.Gln445*
: comp. het.
p.Glu466Argfs*27
+
p.Tyr360Metfs*74
: comp. het.
p.Gly64Glu
: hom
Show more (+7)
Ramos, 2019
Family study
1
C
100%
n.a.
p.Asn511Thrfs*243
: hom
Arkadir, 2019
Family study
8
n.a.
75%
n.a.
p.Phe411Leufs*23
: hom
p.Asp354del
: hom
Forouhideh, 2019
Case report/Case series
3
n.a.
100%
n.a.
p.Ile656Thr
: hom
Chen, 2019
Mutational screen
5
A
40%
n.a.
p.Arg113_Ser116dup
: hom
p.Arg113_Ser116dup
+
p.Trp229Cys
: comp. het.
p.Tyr477*
: hom
p.Leu143_Ile147del
: hom
Show more (+1)
1
2
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Feb. 11, 2020. Version: 3.5.91
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