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

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

Proband ID Gender Age at dx (years) Disease class Heart defecta Ancestry SOX17 exonb Nucleotide change AA change Inheritance Allele frequency (gnomAD) CADD REVEL scorec
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
  1. aASD, atrial septal defect; PDA, patent ductus arteriosus; VSD, ventricular septal defect; AV, atrioventricular
  2. bSOX17 variants identified from transcript NM_022454
  3. cRare, deleterious variants defined as gnomAD AF < 0.01% and REVEL > 0.5