. 2014 Nov 19;134(1):123–126. doi: 10.1007/s00439-014-1508-3

Table 1.

Comparison of clinical features in C5orf42 mutated vs. non-mutated OFDVI patients

	Mutated	Non-mutated	p
Any oral-facial feature	7/12 (58 %)	17/17 (100 %)	0.006
Tongue hamartomas/multiple lingual frenula^a	6/12 (50 %)	17/17 (100 %)	0.002
Other oral-facial features^b	4/12 (33 %)	5/17 (29 %)	n.s.
Any polydactyly	14/14 (100 %)	13/17 (76 %)	n.s.
Mesoaxial polydactyly^a	7/14 (50 %)	1/17 (6 %)	0.01
Preaxial polydactyly	14/14 (100 %)	5/17 (29 %)	0.0001
Postaxial polydactyly	9/14 (64 %)	10/17 (59 %)	n.s.
Any CNS abnormality besides MTS	8/14 (57 %)	4/17 (24 %)	n.s.
Hypothalamic hamartoma^a	6/14 (43 %)	1/17 (6 %)	0.03
Occipital encephalocele	2/14 (14 %)	1/17 (6 %)	n.s.
Other CNS abnormalities^c	4/14 (29 %)	2/17 (12 %)	n.s.
Retinal/renal/hepatic involvement	0/14	4/17 (24 %)	n.s.
Retinopathy (only living patients)	0/2	3^e/17 (18 %)	n.s.
Nephronophthisis (only living patients)	0/2	2^e/17 (12 %)	n.s.
Cystic dysplastic kidneys	0/14	0/17	n.s.
Congenital liver fibrosis	0/14	0/17	n.s.
Other congenital abnormalities outside the CNS^d	8/14 (57 %)	1/17 (6 %)	0.004

C5orf42 mutated patients include the 12 patients from 9 families reported by Lopez et al. (2014) and the two patients from the present paper; C5orf42 non-mutated patients (n = 17) are all from the present cohort, and include one patient mutated in OFD1 (see text) and 16 patients from 14 families. Statistical comparisons were made by Fisher’s exact test

^aSufficient for diagnosis of OFDVI in association with the MTS

^bCleft lip and/or palate, tooth abnormalities, lobulated tongue, short frenula

^cPorencephaly, nodular heterotopia, polymicrogyria, corpus callosum abnormalities, hydrocephalus, arhinencephaly

^dAbnormal ribs or long bones, cubitus valgus, heart or aortic defects, uterus septation, common mesentery, coloboma, microphthalmia, Hirschsprung disease, scoliosis

^eIncludes two siblings