Table 1.

Demographics of 14 Adult Patients With CHD2 Variants and Their Genetic Profiles (n = 14)

Patient #	Age range (y)	Family history	Exon #	cDNA	Protein consequence	Variant type	Inheritance	ACMG interpretation	Variant previously reported?
1	18–25	No	N/A	93306085_93529447del	223.362 kbp	Deletion	De novo	Pathogenic	No
2	18–25	No	21	c.2674delC	p.Gln892fs*19	Frameshift	De novo	Pathogenic	No
3	26–30	No	19	c.2397_2398delTG	p.Leu800Aspfs*25	Frameshift	De novo	Pathogenic	No
4	18–25	No	19	c.2423_2424insAT	p.Asn808Lysfs*11	Frameshift	De novo	Likely pathogenic	No
5	18–25	No	17	c.2087delT	p.Phe696Serfs*38	Frameshift	Parents not tested	Likely pathogenic	No
6	30+	No	19	c.2416_2417dupAG	p.Asn808Glyfs*11	Frameshift	De novo	Pathogenic	No
7	18–25	Yes	38	c.4968dup	p.Trp1657Metfs*10	Frameshift	De novo	Pathogenic	Suls et al. (2013)
8	18–25	No	32	c.4133T > G	p.Val1378Gly	Missense	De novo	Likely pathogenic	No
9	18–25	No	21	c.2636C > T	p.Ala879Val	Missense	De novo	Pathogenic	No
10	18–25	No	26	c.3298G > A	p.Ala1100Thr	Missense	De novo	Likely pathogenic	No
11	26–30	No	36	c.4602G > T	p.Trp1534Cys	Missense	De novo	Likely pathogenic	No
12	30+	No	17	c.2095C > T	p.Arg699Trp	Missense	De novo	Pathogenic	De Maria et al. (2022)
13	18–25	No	38	c.4909C > T	p.Arg1637*	Nonsense	De novo	Pathogenic	Suls et al. (2013); Carvill et al. (2013); Galizia et al. (2015)
14	18–25	No	8	c.789dupT	p.Glu264*	Nonsense	De novo	Likely pathogenic	No

Abbreviations: ASD = autism spectrum disorder; F = female; M = male.

Sex, age, ASD diagnosis, family history of epilepsy, and ethnicity are listed when provided. The zygosity of all variants was heterozygous.