Genetic screening in cohort of Egyptian patients with pulmonary arterial hypertension disease.

Background: Variants in the bone morphogenetic protein 2 receptor gene (BMPR2) are the most frequent genetic cause of pulmonary arterial hypertension (PAH). However, correlation of BMPR2 variants and PAH clinical phenotype remains to be elucidated.

Methods and results: The goal of the present study is to investigate variants of the causative gene (BMPR2) in 25 Egyptian patients clinically pre-diagnosed with PAH symptoms and 10 healthy candidates using Sanger sequencing technique. Three pathogenic heterozygous missense variants have been illustrated in BMPR2 gene, two novel variants (V387E, E481K) in exon 9 and 11 respectively and one previously reported missense variant (C496G) in exon 11. The remaining 22 patients as well as the 10 healthy individuals showed no pathogenic variants.

Conclusion: Further studies on larger number of participants, using advanced NGS technique, should be performed to enrich information about genotype/phenotype correlations and incidence of PAH disease among Egyptian population; thus, it would provide families of PAH patients with accurate genetic counseling in order to prevent disease recurrence.