Table 2.

Genetic variants and persistent worse outcome of our cohort of 16 patients with CHARGE syndrome

	Genetic variants					Enteral nutrition (months)
Pt no	Nucleotide and protein change		Exon	Intron	Variant type	1	2–6	7–24	> 24	Long-term tracheostomy
1	CHD7 c.2509_2512delCATT	p.His837ValfsTer5	8		F
2	CHD7 c.5722_5723delAC	(p.Thr1908ProfsTer17)	29		F	+	+	+	+	+
3	CHD7 C.2957 + 5G > A			11	S
4	CHD7 c.1774delC	(p.Gln592SerfsTer16)	3		F	+
5	CHD7 c.4795C > T	(p.Gln1599Ter)	21		NS
6	CHD7 c.3004C > T	(p.Gln1001Ter)	12		NS	+	+	+
7	CHD7 c.6936 + 2 T > A			32	S	+
8	c.969-975delAACAA	(p.Val323TyrfsTer11)	2		F	+	+	+	+	+
9	CHD7 c.5782C > T	(p.Gln1928Ter)	29		NS	+
10	CHD7 c.1163C > G	(p.Ser230Ter)	2		NS
11	CHD7 c.3156 T > A	(p.Ser1052Arg)	12		MS	+	+
12	CDH7c.6955C > T	p.Arg2319Cys	33		MS	+
13	CHD7 c.7156-4A > G			33	S
14	CDH7c.2442 + 5G > A			6	S
15	CHD7c.7803C > G	p.Tyr2601Ter	35		NS	+	+	+
16	c. 4644 + 1G > A			20	S

MS missense, NS non sense, FS frameshift, S splicing