Table 1 Clinical and genetic characteristics of mutation carriers
Patient | Gender | Age | Clinical classification | Positive family history | Gene | Type of mutation | Gene region | Mutation | FM clinically assessed | Affected FM | Unaffected FM carrying mutation | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
I/HPAH | ||||||||||||
1 | A8317 | f | 7 | IPAH | no | BMPR2 | deletion | Exons 4-5 | c.419-?_621 + ?del | 2 | - | 1 |
2 | A15678 | f | 12 | IPAH | ? | BMPR2 | nonsense | Exon 10 | c.1297C > T (p.Q433X) | - | 1 (n. a.) | n. a. |
3 | A8205 | m | 5 | IPAH | no | BMPR2 | missense (de novo) | Exon 11 | c.1472 G > A (p.R491Q) | 3 | - | - |
4 | A16735 | m | 12 | IPAH | ? | BMPR2 | frameshift | Exon 12 | c.2668DelA (p.R890GfsX6) * | - | ? (adopted) | n. a. |
5 | A8643 | m | 5.5 | IPAH; syncope | no | BMPR2 | Splicing defect? | Intron 3 | c.419-10 T > C *# | 3 | - | 2 |
6 | A3385 | f | 3 | IPAH; syncope | no | ACVRL1 | missense | Exon 7 | c.950 T > C (p.I317T) * | 7 | - | 3 |
7 | A6620 | m | 3.5 | HPAH | yes (HHT + HPAH) | ACVRL1 | missense | Exon 10 | c.1451 G > A (p.R484Q) | 6 | 2 (one HHT) | 1 |
8 | A15836 | f | 1.5 | IPAH | no | ENG | missense | Exon 5 | c.640 G > A (p.G214S) | 4 | - | 2 |
CHD-APAH | ||||||||||||
9 | C6710 | f | 2 | CHD-APAH (VSD); Fetal alcohol syndrome | Yes (HPAH) | BMPR2 | deletion | Exon 1 | c.1-?_76 + ?del | 1 | 3 (all †, not tested) | 1 |
10 | C3783 | m | 13 | CHD-APAH (ASDII); Congenital hip dislocation | no | ENG | missense | Exon 12 | c.1633 G > A (p.G545S) | 6 | - | 1 |