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. Author manuscript; available in PMC: 2017 Oct 1.
Published in final edited form as: J Hum Genet. 2016 Dec 22;62(4):465–471. doi: 10.1038/jhg.2016.151

Table I.

Clinical features of molecularly confirmed Kaufman oculocerebrofacial syndrome

C1741+2G>C C545-2 A>G C2180A>C C61G>T C556C>T C1166G>A C1445T>A C2990G>C C2335G>A C2098C>T C1A>G
Family 1 Basel-Vanagaite et al. 2012 Family 2 Basel-Vanagaite et al. 2012 Family 3 Basel-Vanagaite et al. 2012 Family 4 Basel-Vanagaite et al. 2012 Family 5 Flex et al. 2013 Family 6 Flex et al. 2013 Family 7 Basel-Vanagaite et al. 2014 Family 8 Basel-Vanagaite et al. 2014 Family 9 Basel-Vanagaite et al. 2014 Family 10 Basel-Vanagaite et al. 2014 Family 11 Pedurupillay et al. 2014 Family 12 Present case
Case 1 Case 2 Case 3 Case 4 Case 5 Case 6 Case 7 Case 8 Case 9 Case 10 Case 11 Case 12 Case 13 Case 14 Case 15
Sex F F M F M F F M F M F M F F M
Age at examination 3 years 7 years 3 years 1 year 33 years NR NR 7 years 2 years 16 years 10 years 25 years 8 years 4 years 10 y
Birthweight in centile 3rd 3rd 3rd NR normal 25th 3rd normal <3rd <3rd <3rd NR 3rd 3rd 5th
OFC at birth in centile −2SD <3.5 <3rd NR NR NR NR NR NR NR NR <3rd <3rd <3rd 25th
Microcephaly <10th centile + + + + − + + + + + + + + + − 13/15
Sparse thin scalp hair + + + + − − − − − + + − − − + 7/15
Long face − + + + + + − − − + − − + − + 8/15
Arched/sparse laterally broad eyebrows + + + + + + + − + + + + + + + 14/15
Upslanting palpebral fissures − + + − + + + − − + + + + + − 10/15
Epicanthal folds + + + + + + + + + + + + + + + 15/15
Ptosis + + − + NR − + NR NR NR NR NR + + + 7/15
Blepharophimosis + + + + + + + − + + + + + + + 15/15
Microcornea − − − − + + + − − − − − − − + 2/15
Microphthalmia − − − − + + + − − − − − + + − 5/15
Anteverted nares/short nose + + + + + + + − + + + + + + − 13/15
Long philtrum + + + + NR + + NR NR NR NR NR + + + 9/9
Small mouth + + + + + + + + − + + + + + + 14/15
Thin upper lip − + + + + + − − + + + + − − + 10/15
Small/frail teeth − − − NR NR + + NR NR NR NR NR + + − 4/8
Micro/retrognathia + + + + − + + + + + + + − − − 11/15
Dysplastic ears + + + + + + + + + + + + + + − 14/15
Nail dysplasia NR NR NR NR NR NR NR NR NR NR NR NR + + − 2/3
Hypoplastic/absent terminal phanlanges − − − − − − − − − − − − − − + 1/15
Pes talus varus/valgus − − − − − + + − + − + − − − − 4/15
Hallux varus/valgus − − − − − − − − − − − − − − + 1/15
Absent nail − − − − − − − − − − − − − − + 1/15
Seizures - - - + - + + - - + + + + + + 9/15
Hypotonia + + + + + + + + + + + + + + + 15/15
Abnormal brain imaging + + + + + NR NR + + + + + + - - 11/13
Renal anomalies - - - - - + + - + - - + - + + 6/15
Respiratory distress + + - + - + + - - + + - + + - 9/15
Feeding difficulties + + + + NR + + + + + + + + + + 14/14
Genital anomalies - - - + + + + - - + + - + + - 8/15
Hearing impairment + - - - + + + + + + - + - + + 10/15
Developmental Disability/Intellectual disability + + + + + + + + + + + + + + + 15/15
Absent speech + + + + + + + - + + + - + + + 13/15
Reduced cholesterol values + + - + + - + - + - - + - + - 8/15
UBE3B mutations c.1741+2G>C
c.1741+2G>C		 c.545-2A>G
c.2223-2224delAG		 c.2180A>C
c.2180A>C		 c.61G>T
c.61G>T		 c.556C>T
c.556C>T		 c.1166G>A
c.1166G>A		 c.1445T>A
c.1616T>A		 c.2990G>C
c.2990G>C		 c.2335G>A
c.2335G>A		 c.2098C>T
c.2990G>C		 c.1A>G
c.1773delC		 c.3139_3141del
c.3139_3141del

F, female; M, male; NR, Not reported