Investigation of Genetic Causes in Patients with Congenital Heart Disease in Qatar: Findings from the Sidra Cardiac Registry
<div><p>Congenital heart disease (CHD) is one of the most common forms of birth defects worldwide, with a prevalence of 1–2% in newborns. CHD is a multifactorial disease partially caused by genetic defects, including chromosomal abnormalities and single gene mutations. Here, we describe...
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2022
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| _version_ | 1864513519658991616 |
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| author | Sarah Okashah (18282262) |
| author2 | Dhanya Vasudeva (18002494) Aya El Jerbi (18282265) Houssein Khodjet-El-khil (18282268) Mashael Al-Shafai (3466301) Najeeb Syed (12561967) Marios Kambouris (3441308) Sharda Udassi (18282271) Luis R. Saraiva (18282274) Hesham Al-Saloos (18282277) Jai Udassi (18282280) Kholoud N. Al-Shafai (18282283) |
| author2_role | author author author author author author author author author author author |
| author_facet | Sarah Okashah (18282262) Dhanya Vasudeva (18002494) Aya El Jerbi (18282265) Houssein Khodjet-El-khil (18282268) Mashael Al-Shafai (3466301) Najeeb Syed (12561967) Marios Kambouris (3441308) Sharda Udassi (18282271) Luis R. Saraiva (18282274) Hesham Al-Saloos (18282277) Jai Udassi (18282280) Kholoud N. Al-Shafai (18282283) |
| author_role | author |
| dc.creator.none.fl_str_mv | Sarah Okashah (18282262) Dhanya Vasudeva (18002494) Aya El Jerbi (18282265) Houssein Khodjet-El-khil (18282268) Mashael Al-Shafai (3466301) Najeeb Syed (12561967) Marios Kambouris (3441308) Sharda Udassi (18282271) Luis R. Saraiva (18282274) Hesham Al-Saloos (18282277) Jai Udassi (18282280) Kholoud N. Al-Shafai (18282283) |
| dc.date.none.fl_str_mv | 2022-07-30T03:00:00Z |
| dc.identifier.none.fl_str_mv | 10.3390/genes13081369 |
| dc.relation.none.fl_str_mv | https://figshare.com/articles/journal_contribution/Investigation_of_Genetic_Causes_in_Patients_with_Congenital_Heart_Disease_in_Qatar_Findings_from_the_Sidra_Cardiac_Registry/25516570 |
| dc.rights.none.fl_str_mv | CC BY 4.0 info:eu-repo/semantics/openAccess |
| dc.subject.none.fl_str_mv | Biological sciences Genetics congenital heart defect Qatar genetic investigation whole exome sequencing single-nucleotide variant chromosomal abnormalities |
| dc.title.none.fl_str_mv | Investigation of Genetic Causes in Patients with Congenital Heart Disease in Qatar: Findings from the Sidra Cardiac Registry |
| dc.type.none.fl_str_mv | Text Journal contribution info:eu-repo/semantics/publishedVersion text contribution to journal |
| description | <div><p>Congenital heart disease (CHD) is one of the most common forms of birth defects worldwide, with a prevalence of 1–2% in newborns. CHD is a multifactorial disease partially caused by genetic defects, including chromosomal abnormalities and single gene mutations. Here, we describe the Sidra Cardiac Registry, which includes 52 families and a total of 178 individuals, and investigate the genetic etiology of CHD in Qatar. We reviewed the results of genetic tests conducted in patients as part of their clinical evaluation, including chromosomal testing. We also performed whole exome sequencing (WES) to identify potential causative variants. Sixteen patients with CHD had chromosomal abnormalities that explained their complex CHD phenotype, including six patients with trisomy 21. Moreover, using exome analysis, we identified potential CHD variants in 24 patients, revealing 65 potential variants in 56 genes. Four variants were classified as pathogenic/likely pathogenic based on the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/AMP) classification; these variants were detected in four patients. This study sheds light on several potential genetic variants contributing to the development of CHD. Additional functional studies are needed to better understand the role of the identified variants in the pathogenesis of CHD.</p><p> </p></div><h2>Other Information</h2> <p> Published in: Genes<br> License: <a href="https://creativecommons.org/licenses/by/4.0/" target="_blank">https://creativecommons.org/licenses/by/4.0/</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.3390/genes13081369" target="_blank">https://dx.doi.org/10.3390/genes13081369</a></p> |
| eu_rights_str_mv | openAccess |
| id | Manara2_ea28f76ec6d2122c5f7ac1d97faa2483 |
| identifier_str_mv | 10.3390/genes13081369 |
| network_acronym_str | Manara2 |
| network_name_str | Manara2 |
| oai_identifier_str | oai:figshare.com:article/25516570 |
| publishDate | 2022 |
| repository.mail.fl_str_mv | |
| repository.name.fl_str_mv | |
| repository_id_str | |
| rights_invalid_str_mv | CC BY 4.0 |
| spelling | Investigation of Genetic Causes in Patients with Congenital Heart Disease in Qatar: Findings from the Sidra Cardiac RegistrySarah Okashah (18282262)Dhanya Vasudeva (18002494)Aya El Jerbi (18282265)Houssein Khodjet-El-khil (18282268)Mashael Al-Shafai (3466301)Najeeb Syed (12561967)Marios Kambouris (3441308)Sharda Udassi (18282271)Luis R. Saraiva (18282274)Hesham Al-Saloos (18282277)Jai Udassi (18282280)Kholoud N. Al-Shafai (18282283)Biological sciencesGeneticscongenital heart defectQatargenetic investigationwhole exome sequencingsingle-nucleotide variantchromosomal abnormalities<div><p>Congenital heart disease (CHD) is one of the most common forms of birth defects worldwide, with a prevalence of 1–2% in newborns. CHD is a multifactorial disease partially caused by genetic defects, including chromosomal abnormalities and single gene mutations. Here, we describe the Sidra Cardiac Registry, which includes 52 families and a total of 178 individuals, and investigate the genetic etiology of CHD in Qatar. We reviewed the results of genetic tests conducted in patients as part of their clinical evaluation, including chromosomal testing. We also performed whole exome sequencing (WES) to identify potential causative variants. Sixteen patients with CHD had chromosomal abnormalities that explained their complex CHD phenotype, including six patients with trisomy 21. Moreover, using exome analysis, we identified potential CHD variants in 24 patients, revealing 65 potential variants in 56 genes. Four variants were classified as pathogenic/likely pathogenic based on the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/AMP) classification; these variants were detected in four patients. This study sheds light on several potential genetic variants contributing to the development of CHD. Additional functional studies are needed to better understand the role of the identified variants in the pathogenesis of CHD.</p><p> </p></div><h2>Other Information</h2> <p> Published in: Genes<br> License: <a href="https://creativecommons.org/licenses/by/4.0/" target="_blank">https://creativecommons.org/licenses/by/4.0/</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.3390/genes13081369" target="_blank">https://dx.doi.org/10.3390/genes13081369</a></p>2022-07-30T03:00:00ZTextJournal contributioninfo:eu-repo/semantics/publishedVersiontextcontribution to journal10.3390/genes13081369https://figshare.com/articles/journal_contribution/Investigation_of_Genetic_Causes_in_Patients_with_Congenital_Heart_Disease_in_Qatar_Findings_from_the_Sidra_Cardiac_Registry/25516570CC BY 4.0info:eu-repo/semantics/openAccessoai:figshare.com:article/255165702022-07-30T03:00:00Z |
| spellingShingle | Investigation of Genetic Causes in Patients with Congenital Heart Disease in Qatar: Findings from the Sidra Cardiac Registry Sarah Okashah (18282262) Biological sciences Genetics congenital heart defect Qatar genetic investigation whole exome sequencing single-nucleotide variant chromosomal abnormalities |
| status_str | publishedVersion |
| title | Investigation of Genetic Causes in Patients with Congenital Heart Disease in Qatar: Findings from the Sidra Cardiac Registry |
| title_full | Investigation of Genetic Causes in Patients with Congenital Heart Disease in Qatar: Findings from the Sidra Cardiac Registry |
| title_fullStr | Investigation of Genetic Causes in Patients with Congenital Heart Disease in Qatar: Findings from the Sidra Cardiac Registry |
| title_full_unstemmed | Investigation of Genetic Causes in Patients with Congenital Heart Disease in Qatar: Findings from the Sidra Cardiac Registry |
| title_short | Investigation of Genetic Causes in Patients with Congenital Heart Disease in Qatar: Findings from the Sidra Cardiac Registry |
| title_sort | Investigation of Genetic Causes in Patients with Congenital Heart Disease in Qatar: Findings from the Sidra Cardiac Registry |
| topic | Biological sciences Genetics congenital heart defect Qatar genetic investigation whole exome sequencing single-nucleotide variant chromosomal abnormalities |