Discovery of a novel mutation F184S (c.551T>C) in GATA4 gene causing congenital heart disease in a consanguineous Saudi family
The variant identified in <i>GATA4</i> appears to cause recessive CHD in the family. In silico analysis suggested that this variant was damaging and caused multiple structural and functional aberrations. This study may support prenatal screening of the fetus in this family to prevent diseases in new generations.
Authors
- Sherin Bakhashab (ORCID: https://orcid.org/0000-0003-1580-0409)
- Muhammad Bilal Farooq (ORCID: https://orcid.org/0000-0003-0141-4523)
- Peter Natesan Pushparaj (ORCID: https://orcid.org/0000-0001-7574-1880)
- Absarul Haque (ORCID: https://orcid.org/0000-0002-1103-9694)
- Lars Allan Larsen (ORCID: https://orcid.org/0000-0002-7536-1172)
- Sajjad Karim (ORCID: https://orcid.org/0000-0003-0907-2097)
- Ayat M. Shorbaji
- Mohamed Nabil Alama (ORCID: https://orcid.org/0000-0001-7277-5145)
- Mahmood Rasool (ORCID: https://orcid.org/0000-0003-2997-5891)
- Loubna Siraj Mira
Institutions
- University of Copenhagen (DK)
- King Abdulaziz University (SA)
- Government College University, Faisalabad (PK)
- King Abdulaziz Hospital (SA)
Publication Details
- Journal
- Heliyon
- Published
- 2024-08-29
- DOI
- https://doi.org/10.1016/j.heliyon.2024.e37177
- Citations
- 1
- Primary Topic
- Congenital heart defects research
- Type
- article
- Field-Weighted Citation Impact
- 0.23
Funders
- Ministry of Education – Kingdom of Saudi Arabi