Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease

Table 2 Rare deleterious SOX17 variants identified in 258 PAH-CHD and 413 IPAH/HPAH samples

Proband ID	Gender	Age at dx (years)	Disease class	Heart defect^a	Ancestry	SOX17 exon^b	Nucleotide change	AA change	Inheritance	Allele frequency (gnomAD)	CADD	REVEL score^c
JM0016	M	5	PAH-CHD	ASD	European	2	c.C398T	p.P133L	Paternal	–	32.0	0.91
JM0025	M	7 months	PAH-CHD	VSD	European	2	c.489_510del	p.Q163fs	De novo	–	33	N/A
JM1277	F	30	PAH-CHD	ASD	Asian	2	c.1203delC	p.D401fs	Unknown	–	24.1	N/A
JM1417	F	3	PAH-CHD	ASD	European	2	c.489_510del	p.Q163fs	Paternal or de novo	–	33	N/A
JM174	F	14	PAH-CHD	ASD	European	2	c.344delG	p.R115fs	Maternal	–	35	N/A
JM654	M	1	PAH-CHD	PDA	Hispanic	1	c.A284G	p.N95S	Unknown	–	24.7	0.93
JM673	M	34	PAH-CHD	ASD	European	2	c.C388T	p.Q130X	Unknown	–	39.0	N/A
JM887	F	3	PAH-CHD	PDA	European	1	c.A226G	p.M76V	Unknown	–	28.7	0.97
JM951	M	9	PAH-CHD	ASD, VSD, AV canal defect, sinus inversus, mitral cleft	Hispanic	2	c.C664G	p.P222A	Unknown	–	26.1	0.57
SPH1070EW5480	F	38	PAH-CHD	Unknown	Hispanic	2	c.A392G	p.D131G	Unknown	–	22.4	0.89
SPH831KB5173	F	32	IPAH	N/A	European	2	c.G317T	p.W106L	Unknown	–	28.4	0.9
JM1363	F	5	IPAH	N/A	Hispanic	2	c.489_510del	p.Q163fs	Maternal	–	33	N/A
FPPH126-01	M	3	HPAH	N/A	European	1	c.72_76del	p.M24fs	Unknown	–	33	N/A

^aASD, atrial septal defect; PDA, patent ductus arteriosus; VSD, ventricular septal defect; AV, atrioventricular
^bSOX17 variants identified from transcript NM_022454
^cRare, deleterious variants defined as gnomAD AF < 0.01% and REVEL > 0.5

ISSN: 1756-994X