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Novel genomic variants associated with polysplenia, situs inversus totalis, atrial septal defect and double outlet right ventricle in Saudi patient
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  • Yousef Mohammedrabaa Hawsawi,
  • Turki Mohammed Sobahy Sobahy,
  • Samar Zailaie,
  • Mohammed Baghdadi ,
  • Donya Bahussain,
  • Othman Al-Zahrani,
  • Chellasamy Panneerselvam,
  • Edward Cupler,
  • Amjad Al-Kouatli
Yousef Mohammedrabaa Hawsawi
King Faisal Specialist Hospital and Research Centre - Jeddah
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Turki Mohammed Sobahy Sobahy
King Faisal Specialist Hospital and Research Centre - Jeddah
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Samar Zailaie
King Faisal Specialist Hospital and Research Centre - Jeddah
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Mohammed Baghdadi
King Faisal Specialist Hospital and Research Centre - Jeddah
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Donya Bahussain
King Faisal Specialist Hospital and Research Centre - Jeddah
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Othman Al-Zahrani
University of Tabouk Faculty of Science
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Chellasamy Panneerselvam
University of Tabouk Faculty of Science
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Edward Cupler
King Faisal Specialist Hospital and Research Centre - Jeddah
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Amjad Al-Kouatli
King Faisal Specialist Hospital and Research Centre - Jeddah
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Abstract

In this case study, we reported a case of 8-year-old Saudi patient diagnosed with polysplenia, situs inversus totalis and double outlet right ventricle. We identified five novel missense mutation in three genes GATA4, NIPBL and APC as causative mutations and could be used for early detecting of polysplenia syndrome.