Table 1 Clinical data of patients with UBE3A intragenic deletions, following the clinical features of AS described by Williams et al., 2006
Patient 1 | Patient 2 | Bürger, et al., 2002 | Boyes, et al., 2006 | Boyes, et al., 2006 | Calì, et al., 2010 | Beleza-Meireles, et al., 2011 | Piard, et al., 2011 | Piard, et al., 2011 | |
|---|---|---|---|---|---|---|---|---|---|
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 |