Table 1.

Genetic data for fetus/patients 1–5 with identified heterozygous sequence alterations

Patient	Gene	Mutation		Occurence	References
		cDNA	Protein
Fetus 1	SIX3	c.385G>T	p.Glul29X	De novo	This study and Lacbawan et al. (2009)
Patient 2	SIX3	c.109G>T	p.Gly37Cys	Paternal	This study and Lacbawan et al. (2009)
Patient 3	SIX3	c.499G>T	p.Ala167Ser	NA	This study
Patient 4	SIX3	ac.618C>A + c.621G>A	ap.Gly206Gly + p.Glu207Glu	Paternal	This study
Patient 5	SHH	c.869G>A	p.Gly290Asp	Maternal	This study/Schell-Apacik et al. (2009), and Roessler et al. (2009a)

NA not assessed

^aUncertain functional significance