Table 1 Clinical data of 14 patients with EXOSC3 mutation

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