STU-29 |
STU-29 |
STU-29 |
STU-29 |
STU-29 |
STU-29 |
STU-29 |
|
II-2
|
Father
|
45
|
M
|
Affected
|
GNPTAB
|
c.3598G>A/+
|
Cosegregation of the pathogenic allele suggests a dominant
inheritance pattern
Familial
non consanguineous
|
II-4 |
Mother |
38 |
F |
Unaffected |
|
+/+ |
|
III-4 |
Brother |
20 |
M |
Affected |
|
c.3598G>A/+ |
|
III-6 |
Sister |
17 |
F |
Unaffected |
|
+/+ |
|
III-7 |
Proband |
16 |
M |
Affected |
|
c.3598G>A/+ |
|
III-8 |
Younger brother |
15 |
M |
Unaffected |
|
+/+ |
|
STU-63 |
STU-63 |
STU-63 |
STU-63 |
STU-63 |
STU-63 |
STU-63 |
|
II-5
|
Father
|
50
|
M
|
Unaffected
|
GNPTG
|
+/+
|
de novo variation
Sporadic
non consanguineous
|
II-10 |
Mother |
45 |
F |
Unaffected |
|
+/+ |
|
III-1 |
Proband |
24 |
M |
Affected |
|
c.802A>C/+ |
|
III-2 |
Sister |
19 |
F |
Unaffected |
|
+/+ |
|
STU-34 |
STU-34 |
STU-34 |
STU-34 |
STU-34 |
STU-34 |
STU-34 |
|
II-5
|
Father
|
50
|
M
|
Unaffected
|
NAGPA
|
c.131G>C/+
|
The variation does not cosegregate with affected status
Sporadic
non consanguineous
|
II-6 |
Mother |
40 |
F |
Unaffected |
|
+/+ |
|
III-3 |
Brother |
18 |
M |
Unaffected |
|
c.131G>C/+ |
|
III-4 |
Proband |
14 |
M |
Affected |
|
c.131G>C/+ |
|
III-5 |
Younger brother |
11 |
M |
Unaffected |
|
DNA unavailable |
|