Table 2 Genetic variants identified in 12 patients
Patient | Gene | Disease (OMIM) | Inheritance pattern | Position | RefSeq | Nucleotide Change | Protein Change | Zygosity | Variant type | GnomAD/ExAC | Prediction (SIFT/polyphen2/MutationTaster) | Previously reported | Classification |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PPHN/PAH related genes | |||||||||||||
 P001 | TBX4 | Ischiocoxopodopatellar syndrome, [MIM:147891] | AD | chr17:59560872 | NM_018488 | c.1633G > T | p.G545X | Het | stop-gain | ./. | ././D | / | LP |
 P002 | BMPR2 | Pulmonary hypertension, familial primary, 1, with or without HHT, [MIM:178600]; Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated, [MIM:178600] | AD | chr2:203417560 | NM_001204 | c.1535A > C | p.K512 T | Het | missense | ./. | T/B/D | PMID: 11115378 | P |
 P003 | BMPR2 | chr2:203395643 | NM_001204 | c.1094G > A | p.R365H | Het | missense | 16/2 het carriers (0 in EAS) | T/B/D | PMID: 27453251 | LP | ||
 P004 | BMPR2 | chr2:203379646 | NM_001204 | c.565A > G | p.M189 V | Het | missense | ./. | T/B/D | / | VUS | ||
 P005 | BMPR2 | chr2:203379677 | NM_001204 | c.596A > T | p.D199V | Het | missense | . | D/D/D | / | VUS | ||
 P006 | SMAD9 | Pulmonary hypertension, primary, 2, [MIM:615342] | AD | chr13:37446878 | NM_001127217 | c.587C > T | p.A196V | Het | missense | 5/2 het carriers (0 in EAS) | T/B/N | / | VUS |
 P007 | TGFB1 | Camurati-Engelmann disease, [MIM:131300] | AD | chr19:41854290 | NM_000660 | c.426A > C | p.E142D | Het | missense | ./. | T/B/D | / | VUS |
 P008 | KCNA5 | Atrial fibrillation, familial, 7, [MIM:612240] | AD | chr12:5154958 | NM_002234 | c.1645G > T | p.D549Y | Het | missense | ./. | D/B/N | / | VUS |
 P009 | TRPC6 | Glomerulosclerosis, focal segmental, 2, [MIM:603965] | AD | chr11:101353863 | NM_004621 | c.1327 T > A | p.F443I | Het | missense | ./. | D/D/D | / | VUS |
PPHN/PAH unrelated genes | |||||||||||||
 P010 | ABCC8 | Hyperinsulinemic hypoglycemia, familial, 1, [MIM:256450]; Hypoglycemia of infancy, leucine-sensitive, [MIM:240800] | AD | chr11:17436118 | NM_000352 | c.2331G > A | p.W777X | Het | stop-gain | ./. | T/./A | / | P |
 P011 | OPLAH | 5-oxoprolinase deficiency, [MIM:260005] | AD/AR | chr8:145106241 | NM_017570 | c.3853C > T | p.Q1285X | Het | stop-gain | 18/6 het carriers (all in EAS) | D/./. | / | LP |
 P011 | OPLAH | chr8:145107351 | NM_017570 | c.3303 + 1G > C | . | Het | splicing | ./. | ././. | / | LP | ||
 P012 | KCNH2 | Long QT syndrome 2, [MIM:613688]; Short QT syndrome 1, [MIM:609620] | AD | chr7:150654411 | NM_000238 | c.1096C > T | p.R366X | Het | stop-gain | ./. | T/./A | PMID: 11468227 | P |