Skip to main content

Table 1 Clinical data of patients with UBE3A intragenic deletions, following the clinical features of AS described by Williams et al., 2006

From: Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome: case report and review of the literature

  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
  1. F female, M male, + present, − absent, NA not available
  2. aNomenclature exons 1–10 according to NM_130838.1
  3. bNomenclature exons according to Kishino and Wagstaff, 1998; Yamamoto, et al., 1997
  4. cNomenclature exons 1–14 according to NM_00462.3
Back to article page

BMC Medical Genetics

ISSN: 1471-2350

Contact us