Table 1

Clinical presentation of subjects with biallelic inactivating UBE3B gene mutations

Subject(s)	UCSC-KS01	UCSC-KS02	1	2–1	2–2	3	KOS
Reference(s)	This study	This study	¹²	¹²	¹²	¹²	^1–4
UBE3B mutations	c.556C>T* truncating	c.1166G>A* truncating	c.1741+2G>C* truncating	c.545−2A>G truncating c.2223_2224delAG truncating		c.2180A>C* p.Q727P	Unknown
Sporadic/familial	Sporadic	Sporadic	Sporadic	Familial		Sporadic	1 familial 4 sporadic
Sex	Female	Female	Female	Female	Male	Female	5 female 3 male
Neonatal findings
Weight	25th cent.	3rd cent.	3rd cent.	3rd cent.	3rd cent.	nr	Variable†
Respiratory distress	+	+	+	+	−	+	+ (7/7)
Laryngeal stridor/noisy breathing	+	+	+	−	−	+	+ (3/4)
Failure to thrive	+	+	+	+	+	+	+ (5/6)
Feeding difficulties	+	+	+	+	+	+	+ (5/6)
Reduced growth	+	+	−	+	+	+	+ (3/7)
Delayed psychomotor development	+	+	+	+	+	+	+ (8/8)
Delayed language	+	+	+	+	+	+	+ (4/4)
Seizures	+	+	−	−	−	+	− (1)
Shuffling gait	+	+	nr	nr	nr		+ (3/4)
Hypotonia	+	+	+	+	−	+	+ (5/6)
Craniofacial features
Microbrachycephaly	+	+	+	+	+	+	+ (7/7)
Long face	+	−	−	+	+	+	+ (5/7)
Sparse and laterally broad eyebrows	+	+	+	+	+	+	+ (7/7)
Upslanting palpebral fissures	+	+	−	+	+	−	+ (7/7)
Telecanthus	+	+	+	+	+	+	+ (5/6)
Blepharophimosis	+	+	+	+	+	+	+ (3/4)
Ptosis	−	+	+	+‡	−	+	+ (2/3)
Epicanthal folds	+	+	+	+	+	+	+ (4/7)
Short nose	+	+	+	+	+	+	+ (2/3)
Anteverted nares/columella below alae nasi	+	+	+	+	+	+	+ (2/3)
Long philtrum	+	+	+	+	+	+	+ (5/6)
Thin lips	+	−	−	+	+	+	+ (7/7)
Small mouth	+	+	+	+	+	+	+ (3/5)
Micrognathia	+	+	+	+	+	+	+ (8/8)
High, narrow palate	+§	+	+	+§	−	−	+ (5/5)
Small/frail teeth	+	+	−	−	−	nr	+ (6/7)
Cup shaped ears	+	+	+	+	+	+	+ (7/8)
Preauricular tags	+	+	−	−	−	−	+ (1/8)
Auricular stenosis	+	+	−	−	−	−	nr
Eye anomalies
Microcornea	+¶	+¶	nr	nr	nr	nr	+ (5/7)
Strabismus	+	+	−	+	−	−	+ (6/7)
Pale disk	+	+	−	−	−	−	− (5/7)
Nystagmus	−	−	−	−	−	−	− (1/6)
Myopia/astigmatism	+	−	−	+	−	−	+ (5/6)
Hearing impairment	+	+	+	−	−	−	nr
Skeletal features
Bell shaped thorax	+	+	nr	nr	nr	nr	+ (5/6)
Long and thin fingers	+	+	nr	nr	nr	nr	+ (6/6)
Coxa valga	+	−	nr	nr	nr	nr	+ (2/2)
Pes talus valgus/varus	+	+	nr	nr	nr	nr	+ (2/3)
Clitoromegaly	+	+	nr	nr		nr	+ (3/4)
Constipation	+	+	−	+	+	−	+ (3/4)
Gastro-oesophageal reflux	+	+	+	+	+	+	+ (1/1)**
Thin skin	+	+	+	+	+	+	nr
Reduced cholesterol values	−	+††,‡‡	+††	+‡‡	−	+‡‡	nr

*Homozygous change by descent.
†3rd cent. (N=3); 10th cent. (N=1); 25th cent. (N=1); 75th cent. (N=3).
‡Unilateral (left).
§Submucous cleft palate.
¶<9 mm diameter at 14 years.
**Pyloric spasm.
††Low HDL cholesterol.
‡‡Low total cholesterol.
cent., centile; HDL, high density lipoprotein; KOS, Kaufman oculocerebrofacial syndrome; nr, not reported.