. 2014 Nov 12;96:e14. doi: 10.1017/S0016672314000160

Table 3.

Prenatal genetic diagnosis of the ten high-risk fetuses

								Proband genotype
Pedigree	Sex	Age years)	Hair colour (at birth/at analysis)	Skin colour	Iris colour	Nystagmus	OCA1 subtype	Paternal allele	Maternal allele	Fetus genotype	Fetus outcome	Baby phenotype
5	M	2·5	White/white	White	Red–brown	Positive	1A	p.R278X	p.R77Q	p.R278X	Normal birth	Normal
6	F	6	White/white	White	Red–brown	Positive	1A	c.232_233insGGG	p.W400L	p.W400L	Normal birth	Normal
8	M	1	White/yellow	White	Black	Positive	1B	IVS2-10delTT-7 T > A	p.E219 K	p.E219 K	Normal birth	Normal
11	M	2	White/white	White	Red–brown	Positive	1A	IVS2-10delTT-7 T > A	c.929_930insC	IVS2-10delTT-7 T > A	Normal birth	Normal
12	F	0·83	White/white	White	Red–brown	Positive	1A	c.232_233insGGG	p.M1 V	p.M1 V	Odinopoeia	^/
										c.232_233insGGG
30	F	7	White/white	White	Red–brown	Positive	1A	p.R299H	p.Q399X	No mutation	Normal birth	Normal
31	F	^/	White/white	White	Red–brown	^/	^/	Deceased		No mutation	Normal birth	Normal
32	^/	^/	^/	^/	^/	^/	/	No proband		p.R278X	Odinopoeia	^/
										p.R299H
33	M	^/	White/white	White	Red–brown	^/	^/	Deceased		p.R116X	Normal birth	Normal
34	M	^/	White/White	White	Red–brown	Positive	^/	Deceased		p.R116X	Odinopoeia	^/
										p.W400L

, no correlated information; F, female; M, male.