Table 1

Variants identified by direct sequencing of the ENG, ALK1, TGBR2 and BMPR2 genes

GeneLocationNucleotide changeAmino acid changers numberMAFSSc–PAH (n=10)SSc without PAH (n=9)Controls (n=7)
ENGExon 1c.14 G>Ap.T5Mrs35400405NA300
Intron 1 (−215)T>Crs60683420NA020
Exon 2c.227 C>Tp.L69Lrs169301290.165242
Intron 2 (+25)A>Crs7847860NA002
Intron 5* (+59)del GNANA111
Intron 7* (+23)ins TCCCCCNANA194
Exon 8c.1029 G>Ap.H343Hrs37398170.066054
Intron 13 (−72)A>Grs107605030.407362
ALK1Promoter (−38)C>Trs22773820.075300
Intron 3 (+11)T>Crs2071218NA745
Intron 3 (−36)*T>ANANA654
Intron 5 (+44)*A>GNANA004
TGFBR2Intron 2 (+7)A>Gp.N389Nrs11557050.336453
Intron 3 (−4)A>Trs11466512NA844
Exon 4c.1167 C>Trs22280480.027001
BMPR2Intron 6 (−22)del Tp.R937Rrs11464745NA120
Exon 12c.2811 G>Ars10611570.128323
  • *Novel variants.

  • ALK1, activin A receptor type II-like 1; BMPR2, BMP receptor type II; ENG, endoglin; MAF, minor allele frequency; NA, not available; PAH, pulmonary arterial hypertension; SSc, systemic sclerosis; TGFBR2, TGFbeta receptor type II.