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TABLE 23.1
Clinical and molecular findings in Patients Diagnosed with the Arthrochalasis Type of Ehlers-Danlos Syndrome
Congenital
Bilateral Hip
Dislocation
Family
History*
Case
Sex
Scoliosis
Additional Findings
Gene
Mutation
References
1
f
+
+
COL1A2 c.226−2A > G
Intron 5 2A>G
7
2
m
+
+
COL1A2 c.226−1G > A
Intron 5 1G>A
7
3
f
+
+
Fractures
+
COL1A2 c.226−1G > C
Intron 5 1G - >C
8,9
4
f
+
Wormian bones
+
COL1A2 c.226−1G > C
Intron 5 1G - >C
own
unpublished
5
f
+
Fractures
COL1A2 c.279G>A
Exon 6 1G>A
4-6,10
6
f
+
?
COL1A2 c.279G>A
Exon 6 1G>A
7
7
m
+
+
Wormian bones, occipital horn
COL1A2 c.279+1G>A
Intron 6 +1G>A
11
8
f
+
+
COL1A2 c.279+1G>A
Intron 6 +1G>A
12,13
9
m
+
+
+
COL1A2 c.279+1G>A
Intron 6 +1G>A
14,15
10
f
+
COL1A2 c.279+1G>A
Intron 6 +1G>A
16,17
11
f
+
Umbilical hernia, lordosis
COL1A2 c.279+1G>A
Intron 6 +1G>A
18
12
m
+
COL1A2 c.279+1G>A
Intron 6 +1G>A
19
13
f
+
Fractures, Wormian bones
±
COL1A2 c.279+1G>A
Intron 6 +1G>A
20,21
14
f
+
COL1A2 c.279+1G>T
Intron 6 +1G>T
7
15
m
+
Fractures
COL1A2 c.279+1G>T
Intron 6 +1G>T
7
16
m
+
±
COL1A2 c.279+1G>T
Intron 6 +1G>T
22
17
m
+
Wormian bones, large head and
wide patent fontanelles
COL1A2 c.279+2T>C
Intron 6 +2T>C
11
18
f
+
Thoraco-lumbar kyphosis
COL1A2 c.279+2T>C
Intron 6 +2T>C
23-25
19
m
+
COL1A2 c.279+2T>C
Intron 6 +2T>C
26
20
f
+
+
Fractures
COL1A2 Exon 6 deletion
7
21
f
+
COL1A2 c.226-22_226-11del
Intron 5 −22_−11del
27
22
f
+
+
COL1A2 c.226-22_226-11del
Intron 5 −22_−11del
27
23
f
+
+
?
COL1A2 c.279+2T > G
Intron 6 +2T > G
28
24
f
+
?
COL1A2 c.226−2A > G
Intron 5 2A>G
28
( Continued )
 
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