Table 3 Pathogenic biallelic EIF2AK4 mutations
From: Genetic analyses in a cohort of 191 pulmonary arterial hypertension patients
Patient ID | Sex/Age | Initial Diagnosis | Variant (1) | Variant (2) | Final Diagnosis |
|---|---|---|---|---|---|
PAH3 | F/21 | IPAH | c.2403 + 1G > A, het | c.2632-1G > A, het | PVOD |
PAH48 | F/39 | IPAH | c.2965C > T: p.Arg989Trp, het | c.4724 T > C: p.Leu1575Pro, het | PVOD |
PAH151 | M/26 | IPAH | c.4414_4417del: p.1472_1473del, hom | Â | PVOD |
PAH169 | F/51 | IPAH | c.168delT: p.Asn56fs, het | c.4660-1G > A, het | PVOD |
PAH197 | F/37 | IPAH | c.594 + 1G > A, het | c.2965C > T: p.Arg989Trp, het | PVOD |
PAH202 | F/29 | IPAH | c.986_987del: p.329_329del, hom | Â | PVOD |