Abdel Megeid Azza K, Refeat Miral M, Ashaat Engy A, El-Kamah Ghada, El-Saiedi Sonia A, Elfalaki Mona M, El Ruby Mona O, Amr Khalda S
Pediatric Department, Cairo University, Giza, Egypt.
Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
J Genet Eng Biotechnol. 2022 Aug 8;20(1):117. doi: 10.1186/s43141-022-00399-0.
Interstitial lung disease (ILD) is a broad heterogeneous group of lung disorders that is characterized by inflammation of the lungs. Surfactant dysfunction disorders are a rare form of ILD diseases that result from mutations in surfactant protein C gene (SFTPC) with prevalence of approximately 1/1.7 million births. SFTPC patients are presented with clinical manifestations of ILD ranging from fatal respiratory failure of newborn to chronic respiratory problems in children. In the current study, we aimed to investigate the spectrum of SFTPC genetic variants as well as the correlation of the SFTPC gene mutations with ILD disease in twenty unrelated Egyptian children with diffuse lung disease and suspected surfactant dysfunction using Sanger sequencing.
Sequencing of SFTPC gene revealed five variants: c.42+35G>A (IVS1+35G>A) (rs8192340) and c.43-21T>C (IVS1-21T>C) (rs13248346) in intron 1, c.436-8C>G (IVS4-8C>G) (rs2070687) in intron 4, c.413C>A p.T138N (rs4715) in exon 4, and c.557G>Ap.S186N (rs1124) in exon 5.
The present study confirms the association of detecting variants of SFTPC with surfactant dysfunction disorders.
间质性肺疾病（ILD）是一组广泛的异质性肺部疾病，其特征为肺部炎症。表面活性剂功能障碍性疾病是ILD的一种罕见形式，由表面活性剂蛋白C基因（SFTPC）突变引起，发病率约为1/170万活产儿。SFTPC患者表现出从新生儿致命性呼吸衰竭到儿童慢性呼吸问题等一系列ILD临床表现。在本研究中，我们旨在通过桑格测序法，调查20名患有弥漫性肺部疾病且疑似表面活性剂功能障碍的非相关埃及儿童中SFTPC基因变异谱以及SFTPC基因突变与ILD疾病的相关性。
SFTPC基因测序发现了5个变异：第1内含子中的c.42+35G>A（IVS1+35G>A）（rs8192340）和c.43-21T>C（IVS1-21T>C）（rs13248346），第4内含子中的c.436-8C>G（IVS4-8C>G）（rs2070687），第4外显子中的c.413C>A p.T138N（rs4715），以及第5外显子中的c.557G>A p.S186N（rs1124）。
本研究证实了检测到的SFTPC变异与表面活性剂功能障碍性疾病之间的关联。
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