Correlating SFTPC gene variants to interstitial lung disease in Egyptian children
Abstract 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...
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| Format: | Article |
| Language: | English |
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SpringerOpen
2022-08-01
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| Series: | Journal of Genetic Engineering and Biotechnology |
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| Online Access: | https://doi.org/10.1186/s43141-022-00399-0 |
| _version_ | 1798042564207575040 |
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| author | Azza K. Abdel Megeid Miral M. Refeat Engy A. Ashaat Ghada El-Kamah Sonia A. El-Saiedi Mona M. Elfalaki Mona O. El Ruby Khalda S. Amr |
| author_facet | Azza K. Abdel Megeid Miral M. Refeat Engy A. Ashaat Ghada El-Kamah Sonia A. El-Saiedi Mona M. Elfalaki Mona O. El Ruby Khalda S. Amr |
| author_sort | Azza K. Abdel Megeid |
| collection | DOAJ |
| description | Abstract 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. |
| first_indexed | 2024-04-11T22:37:12Z |
| format | Article |
| id | doaj.art-eb51ec2af8c04083a14fe99944b51368 |
| institution | Directory Open Access Journal |
| issn | 2090-5920 |
| language | English |
| last_indexed | 2024-04-11T22:37:12Z |
| publishDate | 2022-08-01 |
| publisher | SpringerOpen |
| record_format | Article |
| series | Journal of Genetic Engineering and Biotechnology |
| spelling | doaj.art-eb51ec2af8c04083a14fe99944b513682022-12-22T03:59:11ZengSpringerOpenJournal of Genetic Engineering and Biotechnology2090-59202022-08-012011910.1186/s43141-022-00399-0Correlating SFTPC gene variants to interstitial lung disease in Egyptian childrenAzza K. Abdel Megeid0Miral M. Refeat1Engy A. Ashaat2Ghada El-Kamah3Sonia A. El-Saiedi4Mona M. Elfalaki5Mona O. El Ruby6Khalda S. Amr7Pediatric Department, Cairo UniversityMedical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research CentreClinical Genetics Department, Human Genetics and Genome Research Institute, National Research CentreClinical Genetics Department, Human Genetics and Genome Research Institute, National Research CentrePediatric Department, Cairo UniversityPediatric Department, Cairo UniversityClinical Genetics Department, Human Genetics and Genome Research Institute, National Research CentreMedical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research CentreAbstract 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.https://doi.org/10.1186/s43141-022-00399-0Childhood interstitial lung diseaseSurfactant protein CVariantsILD genetics |
| spellingShingle | Azza K. Abdel Megeid Miral M. Refeat Engy A. Ashaat Ghada El-Kamah Sonia A. El-Saiedi Mona M. Elfalaki Mona O. El Ruby Khalda S. Amr Correlating SFTPC gene variants to interstitial lung disease in Egyptian children Journal of Genetic Engineering and Biotechnology Childhood interstitial lung disease Surfactant protein C Variants ILD genetics |
| title | Correlating SFTPC gene variants to interstitial lung disease in Egyptian children |
| title_full | Correlating SFTPC gene variants to interstitial lung disease in Egyptian children |
| title_fullStr | Correlating SFTPC gene variants to interstitial lung disease in Egyptian children |
| title_full_unstemmed | Correlating SFTPC gene variants to interstitial lung disease in Egyptian children |
| title_short | Correlating SFTPC gene variants to interstitial lung disease in Egyptian children |
| title_sort | correlating sftpc gene variants to interstitial lung disease in egyptian children |
| topic | Childhood interstitial lung disease Surfactant protein C Variants ILD genetics |
| url | https://doi.org/10.1186/s43141-022-00399-0 |
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