AI Article Synopsis
- Genetic analysis revealed pulmonary surfactant abnormalities in 14 out of 17 newborns with unexplained severe respiratory distress.
- Most cases (12) were linked to a deficiency in a specific protein called adenosine triphosphate-binding cassette protein, member A3.
- Only 2 cases were associated with a deficiency in surfactant protein B, indicating it was less common.
Article Abstract
Genetic abnormalities of pulmonary surfactant were identified by DNA sequence analysis in 14 (12 full-term, 2 preterm) of 17 newborn infants with fatal respiratory distress of unknown etiology. Deficiency of adenosine triphosphate-binding cassette protein, member A3 (n = 12) was a more frequent cause of this phenotype than deficiency of surfactant protein B (n = 2).
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| http://dx.doi.org/10.1016/j.jpeds.2007.03.008 | DOI Listing |
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