Table 1.

Overview of published ACD/MPV families with genomic alterations in the FOXF1 gene.

Family number (Fig. 2)	Genomic alteration (all located in first FOXF1 exon)	Protein change	Inheritance	Parental inheritance	Reference
1	c.416G > T	Arg139Leu	Maternal	De novo paternal allele	Sen et al., 2013
2	c.253T > A	Phe85Ile	Not found in parental DNA: germline mosaicism?	—	Sen et al., 2013
3	Insertion 5 UTR side	Unknown	Paternal	De novo maternal allele	Szafranski et al., 2016
4	c.849_850del	p.Ile285fs	Not found in parental DNA: maternal germline mosaicism?	—	Szafranski et al., 2016
5	c90_96del	p.Ser31fs	Paternal; 20% mosaicism in blood nucleated cells	De novo, allele unknown	Szafranski et al., 2016
6	c.231C > A	p.Phe77Leu	Paternal; 70% mosaicism in blood nucleated cells	De novo paternal allele	Reiter et al., 2016
7	c.253T > C	p.Phe85Leu	Maternal	Unknown	Sen et al., 2013
8	c.294C > A	p.His98Gln	Maternal	Unknown	Sen et al., 2013