Correlating SFTPC gene variants to interstitial lung disease in Egyptian children.

Autor: Abdel Megeid AK; Pediatric Department, Cairo University, Giza, Egypt., Refeat MM; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Ashaat EA; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., El-Kamah G; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., El-Saiedi SA; Pediatric Department, Cairo University, Giza, Egypt., Elfalaki MM; Pediatric Department, Cairo University, Giza, Egypt., El Ruby MO; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Amr KS; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt. khalda_nrc@yahoo.com.
Jazyk: angličtina
Zdroj: Journal, genetic engineering & biotechnology [J Genet Eng Biotechnol] 2022 Aug 08; Vol. 20 (1), pp. 117. Date of Electronic Publication: 2022 Aug 08.
DOI: 10.1186/s43141-022-00399-0
Abstrakt: Background: 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.
Results: 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.
Conclusion: The present study confirms the association of detecting variants of SFTPC with surfactant dysfunction disorders.
(© 2022. The Author(s).)
Databáze: MEDLINE
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