Table 1.

The FOXL2 mutations identified in the current study.

DNA sequence variation	Amino acid change	Predicted protein change	Inheritance	Allele Frequency	Polyphen-2	Mutation Taster	ACMG	Reference
c.173_175dup	p. Ser58dup	Insertion mutation	Sporadic	0	–	Disease causing	LP	Current study
c.188T>A	p. Ile63Asn	Missense mutation	Familial	0	Probably damaging	Disease causing	LP	(20)
c.316C>T	p. Leu106Phe	Missense mutation	Familial	0	Possibly damaging	Disease causing	LP	(5, 21)
c.382T>G	p. Trp128Gly	Missense mutation	Familial	0	Probably damaging	Disease causing	LP	(22)
c.383G>A	p. Trp128*	Nonsense mutation	Familial	0	–	Disease causing	P	(22, 23)
c.481C>T	p. Gln161*	Nonsense mutation	Sporadic	0	–	Disease causing	LP	Current study
c.576del	p. Lys193Serfs*78	Frameshift mutation	Sporadic	0	–	Disease causing	LP	Current study
c.586C>T	p. Gln196*	Nonsense mutation	Sporadic	0	–	Disease causing	P	(24)
c.655C>T	p. Gln219*	Nonsense mutation	Familial	0	–	Disease causing	P	(25, 26)
c.672_701dup	p. Ala225_Ala234dup	Extended polyalanine tract	Familial	4.28E-05	–	Disease causing	P	(27, 28)
c.675_714del	p. Ala226Leufs*32	Frameshift mutation	Sporadic	0	–	Disease causing	P	Current study
c.804dupC	p. Gly269Argfs*263	Frameshift mutation	Sporadic	0	–	Disease causing	P	(27, 29)
c.843_859dup	p. Pro287Argfs*75	Frameshift mutation	Sporadic	0	–	Disease causing	P	(27)

ACMG, American College of Medical Genetics; LP, likely pathogenic; P, pathogenic.