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Utilizing Whole Exome Sequencing Reveals a Rare Inherited Variant in ABCA3 Gene
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  • Montaha Al-Iede,
  • Mariam Khanfar,
  • Luma Srour,
  • Raja Rabah,
  • Mousa Al-Abbadi,
  • Belal Azab,
  • Eman Badran
Montaha Al-Iede
The University of Jordan
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Mariam Khanfar
Jordan University of Science and Technology Faculty of Applied Medical Science
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Luma Srour
The University of Jordan
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Raja Rabah
University of Michigan Medical Center
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Mousa Al-Abbadi
The University of Jordan
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Belal Azab
The University of Jordan
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Eman Badran
The University of Jordan
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Abstract

Respiratory distress syndrome (RDS) is one of the most common neonatal diseases causing early life morbidity and mortality. We present a case of a full-term baby born to consanguineous parents who died due to severe progressive respiratory failure (PRF). Whole exome sequencing (WES) identified a homozygous disease-causing variant in the ABCA3 gene. Histopathological and electron microscopic examination of postmortem lung tissue revealed characteristic findings consistent with congenital surfactant deficiency along with the ultrastructural evidence of ‘fried-egg’ like inclusions. Our study provides thorough clinical, radiological, and ultrastructural analysis of the variant’s clinical impact and elucidates WES’s valuable role in the molecular diagnosis of (PRF).