• Samar I E Ayyad, Miral M Refeat, Engy A Ashaat, Abdel-Rahman B Abdel-Ghaffar, and Germine M Hamdy.
• Helwan Joint Laboratory, Helwan, Egypt.
• Ir J Med Sci. 2025 Feb 11.

BackgroundVariants 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 ResultsThe 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.ConclusionFurther 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.© 2025. The Author(s).

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