Clinical and genetic characteristics of pulmonary arterial hypertension in Lebanon

BMC Medical Genetics

Table 1 BMPR2 variants in pulmonary hypertension patients (PHT), with their corresponding global allele frequencies (AF), and predictive protein effects (Polyphen2). ASD (Atrial Septal Defect), VSD (Ventricular Septal Defect), ExAC (Exome Aggregation Consortium), 1000G (1000 Genome from the International Genome Sample Resource)

Family	Sex	Age at Diagnosis	Phenotype	mPAP (mmHg)	Gene	Mutation	familial/ sporadic	Zygosity	ExAC AF	1000 G AF	SIFT	Polyphen2
A	F	5	Large ASD and PAH	45	BMPR2	p.Q6*	s (de novo)	Heterozygous			N/A	N/A
B	F	38	PAH	50	BMPR2	p.N126S	f	Heterozygous			Damaging	Probably Damaging
C	F	25	PAH	50	BMPR2	p.R491W	f	Heterozygous			Damaging	Damaging
C	F	25	PAH	94	BMPR2	p.R491W	f	Heterozygous			Damaging	Damaging
D	F	11	VSD and PAH	88	BMPR2	p.S775 N	s	Heterozygous	0.02516	0.00998403	Tolerated	Benign
E	F	6	ASD and PAH	36	BMPR2	p.S775 N	s	Heterozygous	0.02516	0.00998403	Tolerated	Benign
F	M	46	PAH	50	BMPR2	p.S775 N	s	Heterozygous	0.02516	0.00998403	Tolerated	Benign
G	M	4	VSD and PAH	43			s
H	M	11	PAH	77			s
I	F	1	PAH VSD/ASD	33			s
J	M	22	PAH	56			s
K	F	20	PAH	50			s
L	F	31	PAH	41			s
M	F	45	PAH	58			s
N	F	26	PAH	62			s
O	F	30	PAH	63			s
P	F	57	PAH	46			s
Q	F	7	PAH	55			s
R	F	6	PAH	40			s
S	M	78	PAH	49			s
T	M	34	PAH	40			s

ISSN: 1471-2350