Table 1.
Clinical data of 14 patients with EXOSC3 mutation
| 1 | 2 | 3 | 4 | 5-I | 5-II | 6 | 7-I | 7-II | 8 | 9 | 10 | 11 | 12 | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
Nucleotide change |
c.92G > C |
c.92G > C |
c.92G > C |
c.92G > C |
c.92G > C |
c.92G > C |
c.395A > C |
c.395A > C |
c.395A > C |
c.395A > C (he) g.del37781240-37787410 (he) |
c.395A > C (he) c.743_749delinsA (he) |
c.325-4_329dupGTAGTATGT (he) c.334G > A (he) c.395A > C (he) |
c.325 T > A (he) c.395A > C (he) |
c.404G > A |
|
Amino acid change |
p.G31A |
p.G31A |
p.G31A |
p.G31A |
p.G31A |
p.G31A |
p.D132A |
p.D132A |
p.D132A |
p.D132A; deletion exon 1-3 |
p.D132A; p.L248* |
p.P111*; p.V112I; p.D132A |
p.Y109N; p.D132A |
p.G135E |
|
Ethnic background |
Roma |
Roma |
Roma |
Roma |
Roma |
Roma |
Caucasian |
Caucasian |
Caucasian |
Caucasian |
Caucasian |
Caucasian |
Caucasian |
Pakistan |
|
Pregnancy duration |
39w, CS |
at term |
38w |
37w |
37w |
40w |
39w |
u |
35w |
39w |
38w |
42w |
41w |
40w |
|
Hypotonia at birth |
+ |
+ |
+ |
+ |
+ |
+ |
+ |
+ |
+ |
+ |
+ |
± |
+ |
+ |
|
OFC (SD)
a
(age) |
−4 (1.5 m) |
−2.5 (birth) |
0 (birth) |
+3 (4.5mo) |
0 (4mo) |
+2.5 (4mo) |
+3 (4.5mo) |
−0.5 (11y) |
−2 (6.5y) |
−1 (birth) |
u |
−0.5 (10w) |
−1.5 (6.5mo) |
−1 (8w) |
|
Nystagmus |
- |
- |
u |
+ |
- |
- |
+ |
+ |
+ |
- |
u |
- |
- |
+ |
|
Optic atrophy |
Pale optic disc |
- |
u |
- |
- |
- |
- |
u |
u |
+ |
u |
- |
Small optic discs |
Pale optic disc |
|
Seizures |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
+ West syndrome at 5 mo |
- |
- |
- |
- |
|
Dyskinesia/dystonia |
- |
- |
- |
- |
- |
- |
+ 1 episode, admitted with high temp and pneunomia |
+ |
+ |
- |
- |
- |
- |
- |
|
Tendon reflexes |
absent |
absent |
absent |
absent |
absent |
absent |
brisk |
brisk |
reduced |
reduced |
absent |
reduced |
absent |
absent |
|
Response on visual/auditory stimuli |
- |
- |
u |
- |
- |
- |
++ |
+ |
+ |
± |
- |
± |
- |
- |
|
Age at death (cause) |
4.5mo (cardiac arrest) |
7mo (pneumonia, sepsis) |
5d (respiratory failure) |
5mo (u) |
6mo (viral infection) |
4mo (u) |
7y (respiratory failure) |
12y (GI failure) |
10y (pseudomonas infection) |
6mo (respiratory infection) |
14w (respiratory failure) |
6mo (respiratory infection) |
8.5mo (respiratory failure) |
8w (respiratory failure) |
| Lower motor neuron signs | Neurogenic muscle atrophy | Neurogenic muscle atrophy | u, diagnosed following patient 5-II (cousin) | Tongue fasciculations, denervation (EMG), neurogenic muscle atrophy | u, diagnosed following patient 5-II (sister) | Muscle denervation (EMG) | u | u, diagnosed following patient 7-II (brother) | Denervation (EMG) | Neurogenic muscle atrophy | Denervation (EMG) | Denervation (EMG), reduced motor nerve conduction velocity | Tongue fasciculations, neurogenic muscle atrophy | Denervation, neurogenic muscle atrophy |
he = heterozygous; d = days; w = weeks; mo = months; y = years; u = unknown; ++ = markedly present; + = present; ± = mildly present; - = not present.
aSD for head circumference according to WHO standards (http://www.who.int/childgrowth/standards/hc_for_age/en/index.html).