Genetics
|
Intragenic deletion
|
Exon 2a
|
Exons 9-10a
|
Whole UBE3A
|
Exons 8-16b
|
Exons 8-16b
|
Exon 8c
|
Exons 5-12c
|
Exons 6-12c
|
Exons 6-12c
|
Predicted protein
|
p.0?
|
p.Arg765_852del88
|
p. 0?
|
p.0?
|
p.0?
|
p.Leu517Valfsa27
|
p.0?
|
p.0?
|
p.0?
|
Inheritance
|
De novo
|
De novo
|
Maternal
|
Maternal
|
Maternal
|
Maternal
|
NA
|
Maternal
|
Maternal
|
Clinical data
|
Sex
|
F
|
F
|
M
|
F
|
M
|
M
|
F
|
F
|
F
|
Weight at birth
|
2850 g
|
3000 g
|
2670 g
|
3200 g
|
3350 g
|
3370 g
|
3880 g
|
NA
|
NA
|
Perinatal problems
|
–
|
–
|
NA
|
NA
|
NA
|
–
|
–
|
NA
|
NA
|
Age of sedestation (months)
|
9
|
8
|
12
|
18
|
21
|
18
|
NA
|
9
|
NA
|
Age of walk (months)
|
24
|
24
|
18
|
39
|
39
|
24
|
24
|
24
|
24
|
Consistent clinical features of AS (100% of the affected individuals)
|
Ataxia of gait
|
+
|
+
|
+
|
+
|
+
|
+
|
+
|
NA
|
+
|
Frequent laugher/smiling
|
+
|
+
|
+
|
+
|
+
|
+
|
+
|
+
|
+
|
Apparent happy demeanor
|
+
|
+
|
NA
|
+
|
+
|
NA
|
+
|
+
|
+
|
Easily excitable personality
|
+
|
+
|
NA
|
NA
|
NA
|
NA
|
NA
|
NA
|
NA
|
Hyperactive behaviour
|
+
|
+
|
NA
|
+
|
+
|
NA
|
+
|
NA
|
+
|
Attention deficit
|
+
|
+
|
NA
|
NA
|
NA
|
NA
|
NA
|
NA
|
NA
|
Hand flapping/stereotipies
|
–
|
+
|
NA
|
+
|
NA
|
NA
|
+
|
+
|
+
|
Development delay
|
+
|
+
|
+
|
+
|
+
|
+
|
+
|
+
|
+
|
Severe mental retardation
|
+
|
+
|
+
|
+
|
+
|
+
|
+
|
+
|
+
|
Speech impairement
|
+
|
+
|
+
|
+
|
+
|
+
|
+
|
+
|
+
|
Receptive and non-verbal communication skills higher than verbal ones
|
+
|
+
|
+
|
NA
|
NA
|
NA
|
NA
|
NA
|
NA
|
Frequent clinical features of AS (more than 80% of the affected individuals)
|
Microcephaly
|
Relative
|
–
|
+
|
+
|
+
|
+
|
–
|
+
|
+
|
Seizures
|
+
|
+
|
NA
|
+
|
+
|
–
|
+
|
+
|
+
|
Abnormal EEG
|
+
|
+
|
–
|
+
|
+
|
+
|
+
|
+
|
NA
|
Associatedclinical features of AS (20–80% of the affected individuals)
|
Hypotonia
|
–
|
+
|
–
|
+
|
+
|
+
|
+
|
NA
|
NA
|
Feeding problems
|
–
|
–
|
–
|
NA
|
NA
|
NA
|
+
|
NA
|
NA
|
Prognathia
|
–
|
+
|
NA
|
NA
|
NA
|
NA
|
+
|
NA
|
NA
|
Flat Occiput
|
–
|
–
|
NA
|
NA
|
NA
|
NA
|
+
|
NA
|
NA
|
Occipital groove
|
–
|
–
|
NA
|
NA
|
NA
|
NA
|
NA
|
NA
|
NA
|
Hypopigmented skin, light hair and eye color
|
–
|
–
|
–
|
+
|
+
|
NA
|
NA
|
NA
|
NA
|
Strabismus
|
–
|
–
|
NA
|
NA
|
NA
|
NA
|
NA
|
+
|
+
|
Wide mouth
|
–
|
+
|
–
|
+
|
NA
|
NA
|
NA
|
+
|
NA
|
Wide-spaced teeth
|
+
|
+
|
–
|
NA
|
NA
|
NA
|
NA
|
+
|
+
|
Protruding tongue
|
+
|
–
|
–
|
+
|
NA
|
NA
|
NA
|
NA
|
NA
|
Small hands and feet
|
–
|
–
|
NA
|
NA
|
NA
|
NA
|
NA
|
NA
|
NA
|
Scoliosis
|
–
|
–
|
NA
|
NA
|
+
|
+
|
NA
|
NA
|
+
|
Uplifted flexed arm position, especially during deambulation
|
–
|
+
|
NA
|
NA
|
NA
|
NA
|
NA
|
NA
|
NA
|
Hyperreflexia of the lower extremities
|
+
|
–
|
NA
|
+
|
NA
|
+
|
NA
|
NA
|
NA
|
Tremolous movement of limbs
|
+
|
–
|
NA
|
NA
|
NA
|
NA
|
NA
|
NA
|
NA
|
Freqüent drooling
|
+
|
+
|
NA
|
NA
|
NA
|
+
|
NA
|
NA
|
NA
|
Suck/swallowing disorders
|
+
|
–
|
NA
|
NA
|
NA
|
NA
|
NA
|
NA
|
+
|
Abnormal sleep-wake cycle
|
+
|
–
|
NA
|
+
|
+
|
NA
|
NA
|
+
|
+
|
Chewing/mouthing behaviour
|
+
|
+
|
NA
|
NA
|
NA
|
NA
|
NA
|
NA
|
NA
|
Atraction to/fascination with water
|
+
|
–
|
NA
|
NA
|
NA
|
NA
|
NA
|
NA
|
NA
|
Increased sensitivity to heat
|
+
|
–
|
NA
|
NA
|
NA
|
NA
|
NA
|
NA
|
NA
|