Table 1 FOXG1 variants in new patients with FOXG1 syndrome

From: FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants

Pt. ID	Fam. ID	Age (months)	*FOXG1* variant		Coding effect	FOXG1 domain	Segregation	Method	Classification of variant ²¹	Known *FOXG1* variation
2	2	51	c.214 C > T	p.(Q72*)	Nonsense	N-terminal	De novo	FOXG1 Sanger sequencing	Pathogenic	Novel
1	1	40	c.256delC	p.(Q86Rfs*106)	Frameshift	N-terminal	De novo	FOXG1 Sanger sequencing	Pathogenic	Reported^{2, 3}
5	5	105	c.385delG	p.(E129Sfs*63)	Frameshift	N-terminal	De novo	FOXG1 Sanger sequencing	Pathogenic	Novel
3	3	33	c.406 G > T	p.(E136*)	Nonsense	N-terminal	De novo	Exome	Pathogenic	Hgmd: cm152585
4	4	100	c.460dupG	p.(E154Gfs*301)	Frameshift	N-terminal	De novo	FOXG1 Sanger sequencing	Pathogenic	Reported^{2, 3, 14, 18, 19, 24}
6	6	39	c.460delG	p.(E154Rfs*38)	Frameshift	N-terminal	De novo	FOXG1 Sanger sequencing	Pathogenic	Novel
7	7	72	c.460dupG	p.(E154Gfs*301)	Frameshift	N-terminal	N.A.	NGS panel epileptic encephalopathy	Pathogenic	Reported^{2, 3, 14, 18, 19, 24}
8	8	45	c.460dupG	p.(E154Gfs*301)	Frameshift	N-terminal	De novo	NGS panel epilepsy	Pathogenic	Reported^{2, 3, 14, 18, 19, 24}
9	9	61	c.460dupG	p.(E154Gfs*301)	Frameshift	N-terminal	De novo	NGS panel epilepsy and epileptic encephalopathy	Pathogenic	Reported^{2, 3, 14, 18, 19, 24}
10	10	23	c.517 G > T	p.(E173*)	Nonsense	N-terminal	De novo	Trio-exome	Pathogenic	Novel
11	11	82	c.543 G > C	p.(K181N)	Missense	Forkhead cs	PGM	NGS panel epileptic encephalopathy and microcephaly	Pathogenic	Novel
12	11	34	c.543 G > C	p.(K181N)	Missense	Forkhead cs	PGM	FOXG1 Sanger segregation	Pathogenic	Novel
13	13	85	c.545 C > A	p.(P182Q)	Missense	Forkhead cs	De novo	NGS panel epileptic encephalopathy	Pathogenic	Novel
14	14	93	c.553 A > T	p.(S185C)	Missense	Forkhead cs	De novo	NGS panel epileptic encephalopathy	Likely pathogenic	Novel
15	15	192	c.561 C > A	p.(N187K)	Missense	Forkhead cs	De novo	Trio-exome	Pathogenic	Novel
16	16	62	c.561 C > A	p.(N187K)	Missense	Forkhead cs	De novo	Trio-exome	Pathogenic	Novel
17	17	20	c.565 C > T	p.(L189F)	Missense	Forkhead cs	De novo, identical twins	FOXG1 Sanger sequencing	Pathogenic	Novel
18	17	33	c.565 C > T	p.(L189F)	Missense	Forkhead cs	De novo, identical twins	FOXG1 Sanger segregation	Pathogenic	Novel
19	19	72	c.581 T > G	p.(l194S)	Missense	Forkhead cs	De novo	NGS panel epileptic encephalopathy	Likely pathogenic	Novel
30	30	47	c.590 G > T	p.(S197I)	Missense	Forkhead	De novo	Trio-exome	Pathogenic	Novel
20	20	25	c.592_594delCCC	p.(P198del)	In-frame	Forkhead	De novo	FOXG1 Sanger sequencing	Likely pathogenic	Novel
21	21	46	c.609_616del GCTCAACG	p.(L204Hfs*248)	Frameshift	Forkhead	De novo	Trio-exome	Pathogenic	Novel
22	22	28	c.624 C > G	p.(Y208*)	Nonsense	Forkhead	De novo	NGS panel epileptic encephalopathy	Pathogenic	Reported^{10, 25}
23	23	31	c.730 C > T	p.(R244C)	Missense	Forkhead	De novo	NGS panel microcephaly	Pathogenic	Reported⁷
24	24	14	c.732_741del	p.(H245Tfs*78)	Frameshift	Forkhead	De novo	Trio-exome	Pathogenic	Novel
28	28	192	c.755 G > A	p.(G252D)	Missense	Forkhead	De novo	NGS panel epilepsy	Likely pathogenic	Novel
29	29	33	c.921 C > G	p.(Y307*)	Nonsense	C-terminal	De novo	FOXG1 Sanger sequencing	Pathogenic	Novel
25	25	89	c.974dupT	p.(L325Ffs*130)	Frameshift	C-terminal	De novo	Exome	Pathogenic	Novel
26	26	31	c.1082dupG	p.(L362Pfs*93)	Frameshift	C-terminal	De novo	Trio-exome	Pathogenic	Novel
27	27	204	c.1141delG	p.(A381Pfs*4)	Frameshift	C-terminal	De novo	NGS panel epileptic encephalopathy	Pathogenic	Novel

cs, conserved site; NGS, next-generation sequencing; PGM, parental gonadal mosaicism.

Back to article page

Table 1 FOXG1 variants in new patients with FOXG1 syndrome

Search

Quick links