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Background <p>Variants in the bone morphogenetic protein 2 receptor gene (<i>BMPR2</i>) are the most frequent genetic cause of pulmonary arterial hypertension (PAH). However, correlation of <i>BMPR2</i> variants and PAH clinical phenotype remains to be elucidated.</p> Methods and results <p>The goal of the present study is to investigate variants of the causative gene (<i>BMPR2</i>) 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 <i>BMPR2</i> 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.</p> Conclusion <p>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.</p>

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

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年2月11日

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  • Samar I. E. Ayyad,
  • Miral M. Refeat,
  • Engy A. Ashaat,
  • Abdel-Rahman B. Abdel-Ghaffar,
  • Germine M. Hamdy

摘要

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.