Cystic Fibrosis Fragile X Syndrome Duchenne Muscular Atrophy White... · 2016. 6. 16. · Cystic...
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Xp22.32 Xp22.2 Xp21.3 Xp11.3 Xq12 Xq21.1 Xq21.33 Xq23 Xq26.2 Xq27.3 Xp22.12 Xp21.1 Xp11.22 Xq13.2 Xq21.31 Xq22.2 Xq25 Xq27.1
Transcript of Cystic Fibrosis Fragile X Syndrome Duchenne Muscular Atrophy White... · 2016. 6. 16. · Cystic...
Xp22.32
Xp22.2
Xp21.3
Xp11.3
Xq12
Xq21.1
Xq21.33
Xq23
Xq26.2
Xq27.3
Xp22.12
Xp21.1
Xp11.22
Xq13.2
Xq21.31
Xq22.2
Xq25
Xq27.1
Cystic Fibrosis Fragile X Syndrome Duchenne MuscularDystrophy
Spinal MuscularAtrophy
No Yes UNK/Not specifiedYes No Unknown
50
40
30
20
10
0
16
14
12
10
8
6
4
2
0
30
25
20
15
10
5
0
Inherited67%
Duplications 7%
Other 7%
Deletions65%
Point mutations 21%
De Novo33%
Caucasian (14)
Deletion (12)
AfricanAmerican (6)
Duplication (7)
SoutheastAsian (4)
PrematureStop Codon (6)
Hispanic (4)
FrameshiftVariant (5)
East Asian (1)
Mixed / Other (2)
Splice Site Variant (4)
Not Reported (3)
Horizon detects >90% of
inherited mutations
Inherited67%
Duplications 7%
Other 7%
Deletions65%
Point mutations 21%
De Novo33%
Caucasian (14)
Deletion (12)
AfricanAmerican (6)
Duplication (7)
SoutheastAsian (4)
PrematureStop Codon (6)
Hispanic (4)
FrameshiftVariant (5)
East Asian (1)
Mixed / Other (2)
Splice Site Variant (4)
Not Reported (3)
Horizon detects >90% of
inherited mutations
25%Una�ected
Carrier Carrier
25%A�ected
50% carriers
AFFECTED MALE
X
q
p
DMD geneXp21
q
p
Y
FEMALE CARRIER
X
q
p
DMD geneXp21
X
ToTal Screened number of PoSiTive reSulTS incidence
caucasian 8562 14 1/625
african american 3445 6 1/588
Southeast asian 557 4 1/139
Hispanic 4037 4 1/1111*
east asian 780 1 1/769
mixed/other 1876 2 1/909
ethnicity not reported 3244 3 1/1111
ToTal 22,501 34 1/667Inherited
67%
Duplications 7%
Other 7%
Deletions65%
Point mutations 21%
De Novo33%
Caucasian (14)
Deletion (12)
AfricanAmerican (6)
Duplication (7)
SoutheastAsian (4)
PrematureStop Codon (6)
Hispanic (4)
FrameshiftVariant (5)
East Asian (1)
Mixed / Other (2)
Splice Site Variant (4)
Not Reported (3)
Horizon detects >90% of
inherited mutations
Cystic Fibrosis Fragile X Syndrome Duchenne MuscularDystrophy
Spinal MuscularAtrophy
No Yes UNK/Not specifiedYes No Unknown
50
40
30
20
10
0
16
14
12
10
8
6
4
2
0
30
25
20
15
10
5
0
Cystic Fibrosis Fragile X Syndrome Duchenne MuscularDystrophy
Spinal MuscularAtrophy
No Yes UNK/Not specifiedYes No Unknown
50
40
30
20
10
0
16
14
12
10
8
6
4
2
0
30
25
20
15
10
5
0
muTaTion TyPe number Known family HiSTory
deletion 12 2
duplication 7 3
Premature Stop codon 6 1
frameshift variant 5 3
Splice Site variant 4 0
